The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis

References

• Bak TH, Hodges JR. Motor neuron disease, dementia and aphasia: coincidence, co-occurrence or continuum?. J Neurol. 2001; 248: 260–70
   PubMed Web of Science ®Google Scholar
• Aran FA. Recherches sur une maladie non encore décrite du systéme musculaire (atrophie musculaire progressive). Arch Gén de Méd. 1850; 24: 5–35
   Google Scholar
• Aran FA. Recherches sur une maladie non encore décrite du systéme musculaire (atrophie musculaire progressive) (2e article-suite et fin). Arch Gén de Méd. 1850; 24: 172–214
   Google Scholar
• Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, Parkinsonism and other neurological disorders: a review. Brain. 1981; 194: 217–47
   Web of Science ®Google Scholar
• Strong MJ, Grace GM, Orange JB, Leeper HA, Menon R, Aere C. A prospective study of cognitive impairment in ALS. Neurology. 1999; 53: 1665–70
   PubMed Web of Science ®Google Scholar
• Neary D, Snowden JS, Mann DM. Cognitive change in motor neuron disease/amyotrophic lateral sclerosis (MND/ALS). J Neurol Sci. 2000; 180: 15–20
   PubMed Web of Science ®Google Scholar
• Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B. Are amyotrophic lateral sclerosis patients cognitively normal?. Neurology. 2003; 60: 1094–7
   PubMed Web of Science ®Google Scholar
• Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology. 2005; 65: 586–90
   PubMed Web of Science ®Google Scholar
• Barson FP, Kinsella GJ, Ong B, Mathers SE. A neuropsychological investigation of dementia in motor neuron disease (MND). J Neurol Sci. 2000; 180: 113
   Web of Science ®Google Scholar
• Lomen-Hoerth C, Strong MJ. Cognition in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis, H Mitsumoto, S Przedborksi, P Gordon, M De Bene. Marcel Dekker, London 2006; 115–38
   Google Scholar
• Roberson ED, Hesse JH, Rose KD, Slama H, Johnson JK, Yaffe K, et al. Frontotemporal dementia progresses to death faster than Alzheimer's disease. Neurology. 2005; 65: 719–25
   PubMed Web of Science ®Google Scholar
• Rascovsky K, Salmon DP, Lipton AM, Leverenz JB, DeCarli C, Jagust WJ, et al. Rate of progression differs in frontotemporal dementia and Alzheimer's disease. Neurology. 2005; 65: 397–403
   PubMed Web of Science ®Google Scholar
• Olney RK, Murphy J, Forshew D, Garwood E, Miller BL, Langmore S, et al. The effects of executive and behavioural dysfunction on the course of ALS. Neurology. 2005; 65: 1774–7
   PubMed Web of Science ®Google Scholar
• Brun A, England B, Gustafson L, Passant U, Mann DMA, Neary D, et al. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiat. 1994; 57: 416–8
   PubMed Web of Science ®Google Scholar
• Levy ML, Miller BL, Cummings JL, Fairbanks LA, Craig A. Alzheimer's disease and frontotemporal dementias. Arch Neurol. 1996; 53: 687–90
   PubMed Web of Science ®Google Scholar
• Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration. A consensus on clinical diagnostic criteria. Neurology. 1998; 51: 1546–54
   PubMed Web of Science ®Google Scholar
• Strong MJ, Lomen-Hoerth C, Caselli RJ, Bigio EH, Yang W. Cognitive impairment, FTD and motor neuron disease. Ann Neurol. 2003; 54: S20–3
   PubMed Web of Science ®Google Scholar
• Murphy J, Henry R, Lomen-Hoerth C. Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol. 2007; 64: 330–4
   PubMedGoogle Scholar
• Murphy JM, Henry RG, Langmore S, Kramer JH, Miller BL, Lomen-Hoerth C. Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol. 2007; 64: 530–4
   PubMedGoogle Scholar
• Mitsuyama Y. Presenile dementia with motor neuron disease in Japan: clinico-pathological review of 26 cases. J Neurol Neurosurg Psychiat. 1984; 47: 953–9
   PubMed Web of Science ®Google Scholar
• Caselli RJ, Windebank AJ, Petersen RC, Komori T, Parisi JE, Okazaki E, et al. Rapidly progressing aphasic dementia and motor neuron disease. Ann Neurol. 1993; 33: 200–7
   PubMed Web of Science ®Google Scholar
• Gibbons ZC, Richardson A, Neary D, Snowden JS. Behaviour in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 2008; 9: 67–74
   PubMed Web of Science ®Google Scholar
• Grossman AB, Woolley-Levine S, Bradley WG, Miller RG. Detecting neurobehavioural changes in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 2007; 8: 56–61
   PubMed Web of Science ®Google Scholar
• Schmolck H, Mosnik D, Schulz P. Rating the approachability of faces in ALS. Neurology. 2007; 69: 2232–5
   PubMed Web of Science ®Google Scholar
• Irwin D, Lippa CF, Swearer JM. Cognition and amyotrophic lateral sclerosis (ALS). American Journal of Alzheimer. s disease & other dementias. 2007; 22: 300–12
   PubMedGoogle Scholar
• Moretti R, Torre P, Antonello RM, Carraro N, Cazzato G. Complex cognitive disruption in motor neuron disease. Dement Geriatr Cogn Disord. 2002; 14: 141–50
   PubMed Web of Science ®Google Scholar
• Kilani M, Micallef J, Soubrouillard C, Rey-Lardiller D, Demattei C, Dib M, et al. A longitudinal study of the evolution of cognitive function and affective state in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 2004; 5: 46–54
   PubMed Web of Science ®Google Scholar
• Abrahams S, Leigh PN, Goldstein LH. Cognitive change in ALS. A prospective study. Neurology. 2005; 64: 1222–6
   PubMed Web of Science ®Google Scholar
• Schreiber H, Gaigalat T, Wiedemuth-Catrinescu U, Graf M, Uttner I, Muche R, et al. Cognitive function in bulbar- and spinal-onset amyotrophic lateral sclerosis. J Neurol. 2005; 252: 772–81
   PubMed Web of Science ®Google Scholar
• Robinson KM, Lacey SC, Grugan P, Glosser G, Grossman M, McCluskey LF. Cognitive functioning in sporadic amyotrophic lateral sclerosis: a six-month longitudinal study. J Neurol Neurosurg Psychiat. 2006; 77: 668–70
   PubMed Web of Science ®Google Scholar
• Zimmerman EK, Eslinger PJ, Simmons Z, Barrett AM. Emotional perception deficits in amyotrophic lateral sclerosis. Cogn Behav Neurol. 2007; 20: 79–82
   PubMed Web of Science ®Google Scholar
• Papps B, Abrahams S, Wicks P, Leigh PN, Goldstein LH. Changes in memory for emotional material in amyotrophic lateral sclerosis (ALS). Neuropsychologia. 2005; 43: 1107–14
   PubMed Web of Science ®Google Scholar
• Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiat. 1996; 61: 450–5
   PubMed Web of Science ®Google Scholar
• Gallassi R, Montagna P, Ciardulli C, Lorusso S, Mussato V, Stracciari A. Cognitive impairment in motor neuron disease. Acta Neurol Scand. 1985; 71: 480–4
   PubMed Web of Science ®Google Scholar
• Gallassi R, Montagna P, Morreale A, Lorusso S, Tinuper P, Daidone R, et al. Neuropsychological, electroencephalogram and brain computed tomography findings in motor neuron disease. Eur Neurol. 1989; 29: 115–20
   PubMed Web of Science ®Google Scholar
• Iwasaki Y, Kinoshita M, Ikeda K, Takamiya K, Shiojima T. Neuropsychological dysfunctions in amyotrophic lateral sclerosis: relation to motor disabilities. Intern J Neurosci. 1990; 54: 191–5
   PubMed Web of Science ®Google Scholar
• Ludolph AC, Langen KJ, Regard M, Herzog H, Kemper B, Kuwert T, et al. Frontal lobe function in amyotrophic lateral sclerosis: a neuropsychological and positron emission tomography study. Acta Neurol Scand. 1992; 85: 81–9
   PubMed Web of Science ®Google Scholar
• Strong MJ, Grace GM, Orange JB, Leeper HA. Cognition, language and speech in amyotrophic lateral sclerosis: a review. J Clin Exp Neuropsych. 1996; 18: 291–303
   PubMed Web of Science ®Google Scholar
• Talbot PR, Goulding PJ, Lloyd JJ, Snowden JS, Neary D, Testa HJ. Inter-relation between ‘classic’ motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study. J Neurol Neurosurg Psychiat. 1995; 58: 541–7
   PubMed Web of Science ®Google Scholar
• Bak TH, O'Donovan DG, Xuereb JH, Boniface S, Hodges JR. Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neuron disease-dementia-aphasia syndrome. Brain. 2001; 124: 103–20
   PubMed Web of Science ®Google Scholar
• Duffy JR, Peach RK, Strand EA. Progressive apraxia of speech as a sign of motor neuron disease. American Journal of Speech-Language Pathology. 2007; 16: 198–208
   PubMed Web of Science ®Google Scholar
• Neary D, Snowden JS, Mann DMA, Northern B, Goulding PJ, MacDermott N. Frontal lobe dementia and motor neuron disease. J Neurol Neurosurg Psychiat. 1990; 53: 23–32
   PubMed Web of Science ®Google Scholar
• Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002; 59: 1077–9
   PubMed Web of Science ®Google Scholar
• Vercelletto M, Ronin M, Huvet M, Magne C, Feve JR. Frontal type dementia preceding amyotrophic lateral sclerosis: a neuropsychological and SPECT study of five clinical cases. Eur J Neurol. 1999; 6: 295–9
   PubMed Web of Science ®Google Scholar
• Vercelletto M, Belliard S, Wiertlewski S, Venisse T, Magne C, Duyckaerts C, et al. Neuropsychological and scintigraphic aspects of frontotemporal dementia preceding amyotrophic lateral sclerosis. Rev Neurol (Paris) 2003; 159: 529–42
   PubMed Web of Science ®Google Scholar
• Lakerveld J, Kotchoubey B, Kübler A. Cognitive function in patients with late stage amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiat. 2008; 79: 25–9
   PubMed Web of Science ®Google Scholar
• Gordon PH, Wang Y, Doorish C, Lewis M, Battista V, Mitsumoto H, et al. A screening assessment of cognitive impairment in patients with ALS. Amyotrophic Lateral Sclerosis. 2007; 8: 362–5
   PubMed Web of Science ®Google Scholar
• Flaherty-Craig C, Eslinger P, Stephens B, Simmons Z. A rapid screening battery to identify frontal dysfunction in patients with ALS. Neurology. 2006; 67: 2070–2
   PubMed Web of Science ®Google Scholar
• Kertesz A, Davidson W, Fox H. Frontal behavioural inventory: diagnostic criteria for frontal lobe dementia. Can J Neurol Sci. 1997; 24: 29–36
   PubMed Web of Science ®Google Scholar
• Strong MJ. The evidence for ALS as a multisystems disorder of limited phenotypic expression. Can J Neurol Sci. 2001; 28: 283–98
   PubMed Web of Science ®Google Scholar
• Waldemar G, Varstrup S, Jensen TS, Johnsen A, Boysen G. Focal reductions in cerebral blood flow in amyotrophic lateral sclerosis: A [99mTc]-d,l-HMPAO SPECT study. J Neurol Sci. 1992; 107: 19–28
   PubMed Web of Science ®Google Scholar
• Kato S, Hayashi H, Yagishita A. Involvement of the frontotemporal lobe and limbic system in amyotrophic lateral sclerosis: as assessed by serial computed tomography and magnetic resonance imaging. J Neurol Sci. 1993; 116: 52–8
   PubMed Web of Science ®Google Scholar
• Kew JJM, Goldstein LH, Leigh PN, Abrahams S, Cosgrave N, Passingham RE, et al. The relationship between abnormalities of cognitive function and cerebral activation in amyotrophic lateral sclerosis. Brain. 1993; 116: 1399–423
   PubMed Web of Science ®Google Scholar
• Poloni M, Capitani E, Mazzini L, Ceroni M. Neuropsychological measures in amyotrophic lateral sclerosis and their relationship with CT scan-assessed cerebral atrophy. Acta Neurol Scand. 1986; 74: 257–60
   PubMed Web of Science ®Google Scholar
• Whitwell JL, Jack CR, Jr, Senjem ML, Josephs KA. Patterns of atrophy in pathologically confirmed FTLD with and without motor neuron degeneration. Neurology. 2006; 66: 102–4
   PubMed Web of Science ®Google Scholar
• Mori H, Yagishita A, Takeda T, Mizutani T. Symmetric temporal abnormalities on MR imaging in amyotrophic lateral sclerosis with dementia. AJNR Am J Neuroadiol. 2007; 28: 1511–6
   PubMed Web of Science ®Google Scholar
• Mezzapesa DM, Ceccarelli A, Dicuonzo F, Carella A, De Caro MF, Lopez M, et al. Whole brain and regional brain atrophy in amyotrophic lateral sclerosis. Am J Neuroadiol. 2007; 28: 255–9
   PubMed Web of Science ®Google Scholar
• Ludolph AC, Elger CE, Böttger IW, Kuttig AG, Lottes G, Brune GG. N-isopropyl-p-123I-amphetamine single photon emission computer tomography in motor neuron disease. Eur Neurol. 1989; 29: 255–60
   PubMed Web of Science ®Google Scholar
• Ohnishi T, Hoshi H, Nagamachi S, Futami S, Watanabe K, Mitsuyama Y. Regional cerebral blood flow study with 123I-IMP in patients with degenerative dementia. Am J Neuroradiol. 1991; 12: 513–20
   PubMed Web of Science ®Google Scholar
• Borasio GD, Linke R, Schwartz J, Schlamp V, Abel A, Mozley PD, et al. Dopaminergic deficit in amyotrophic lateral sclerosis assessed with [I-123] IPT single photon emission computed tomography. J Neurol Neurosurg Psychiat. 1998; 65: 263–5
   PubMed Web of Science ®Google Scholar
• Tanaka M, Kondo S, Hirai S, Sun X, Yamagishi T, Okamoto K. Cerebral blood flow and oxygen metabolism in progressive dementia associated with amyotrophic lateral sclerosis. J Neurol Sci. 1993; 120: 22–8
   PubMed Web of Science ®Google Scholar
• Turner MR, Hammers A, Al-Chalabi A, Shaw CE, Andersen PM, Brooks DJ, et al. Distinct cerebral lesions in sporadic and ‘D90A’ SOD1 ALS: studies with [11C]flumazenil PET. Brain. 2005; 128: 1323–9
   PubMed Web of Science ®Google Scholar
• Wicks P, Turner MR, Abrahams S, Hammers A, Brooks DJ, Leigh PN, et al. Neuronal loss associated with cognitive performance in amyotrophic lateral sclerosis: an [11C]-flumazenil PET study. Amyotrophic Lateral Sclerosis. 2008; 9: 43–9
   PubMed Web of Science ®Google Scholar
• Turner MR, Rabiner EA, Al-Chalabi A, Shaw CE, Brooks DJ, Leigh PN, et al. Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs. sporadic ALS. Neurology. 2007; 68: 1233–5
   PubMed Web of Science ®Google Scholar
• Turner MR, Rabiner EA, Hammers A, Al-Chalabi A, Grasby PM, Shaw CE, et al. [11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS. Brain. 2005; 128: 896–905
   PubMed Web of Science ®Google Scholar
• Turner MR, Cagnin A, Turkheimer FE, Miller CCJ, Shaw CE, Brooks DJ, et al. Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study. Neurobiology of Disease. 2004; 15: 601–9
   PubMed Web of Science ®Google Scholar
• Johansson A, Engler H, Blomquist G, Scott B, Wall A, Aquilonius S-M, et al. Evidence for astrocytosis in ALS demonstrated by [11C](L)-deprenyl-D2 PET. J Neurol Sci. 2007; 255: 17–22
   PubMed Web of Science ®Google Scholar
• Jones AP, Gunawardena WJ, Coutinho CMA, Gatt JA, Shaw IC, Mitchell JD. Preliminary results of proton magnetic resonance spectroscopy in motor neuron disease (amyotrophic lateral sclerosis). J Neurol Sci. 1995; 129: 85–9
   PubMed Web of Science ®Google Scholar
• Abrahams S, Goldstein LH, Simmons A, Brammer M, Williams SCR, Giampietro V, et al. Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study. Brain. 2004; 127: 1507–17
   PubMed Web of Science ®Google Scholar
• Phukan J, Pender NP, Hardiman O. Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurology. 2007; 6: 994–1003
   PubMed Web of Science ®Google Scholar
• Wheaton MW, Salamone AR, Mosnik DM, McDonald RO, Appel SH, Schmolck HI, et al. Cognitive impairment in familial ALS. Neurology. 2007; 69: 1411–7
   PubMed Web of Science ®Google Scholar
• Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993; 362: 59–62
   PubMed Web of Science ®Google Scholar
• Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, et al. ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene. J Neurol Sci. 2001; 191: 11–8
   PubMed Web of Science ®Google Scholar
• Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicentre Italian study. J Neurol. 2005; 252: 782–8
   PubMed Web of Science ®Google Scholar
• van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histological analysis. Lancet Neurology. 2008; 7: 416
   Web of Science ®Google Scholar
• Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, van der Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008; doi:10.1038/ng.132.
   PubMed Web of Science ®Google Scholar
• Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008; 319: 1668–72
   PubMed Web of Science ®Google Scholar
• Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol. 2008; 63: 535–8
   PubMed Web of Science ®Google Scholar
• Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008; 131: 746
   Web of Science ®Google Scholar
• Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AMT, et al. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain. 2008; 131: 721–31
   PubMed Web of Science ®Google Scholar
• López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martinez J, Indakoetxea B, et al. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry. 2008; 63: 946–52
   PubMed Web of Science ®Google Scholar
• Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiat. 2007; 78: 754–6
   PubMed Web of Science ®Google Scholar
• Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Baraibar MA, et al. Clinicopathological features of frontotemporal dementia with Progranulin sequence variation. Neurology. 2007; 68: 820–7
   PubMed Web of Science ®Google Scholar
• Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, van Damme P, van der Zee J, et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology. 2008; epub.
   Web of Science ®Google Scholar
• Lawyer T, Netsky MG. Amyotrophic lateral sclerosis. Arch Neurol. 1963; 8: 117–27
   Web of Science ®Google Scholar
• Brownell B, Oppenheimer DR, Hughes JT. The central nervous system in motor neuron disease. J Neurol Neurosurg Psychiat. 1970; 33: 338–57
   PubMed Web of Science ®Google Scholar
• Hirano A. Cytopathology of amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis and other motor neuron disorders, LP Rowland. Raven Press, New York 1991; 91–101
   Google Scholar
• Migheli A, Pezzulo T, Attanasio A, Schiffer D. Peripherin immunoreactive structures in amyotrophic lateral sclerosis. Lab Invest. 1993; 68: 185–91
   PubMed Web of Science ®Google Scholar
• Wong N, He BP, Strong MJ. Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS). J Neuropathol Exp Neurol. 2000; 59: 972–82
   PubMed Web of Science ®Google Scholar
• Strong MJ. Neurofilament metabolism in sporadic amyotrophic lateral sclerosis. J Neurol Sci. 1999; 169: 170–7
   PubMed Web of Science ®Google Scholar
• Leigh PN, Dodson A, Swash M, Brion J-P, Anderton BH. Cytoskeletal abnormalities in motor neuron disease. An immunohistochemical study. Brain. 1989; 112: 521–35
   PubMed Web of Science ®Google Scholar
• van Welsem ME, Hogenhuis JA, Meininger V, Metsaars WP, Hauw JJ, Seilhean D. The relationship between Bunina bodies, skein-like inclusions and neuronal loss in amyotrophic lateral sclerosis. Acta Neuropathol. 2002; 103: 583–9
   PubMed Web of Science ®Google Scholar
• Wharton S, Ince PG. Pathology of motor neuron disorders. Motor Neuron Disorders1st edn, PJ Shaw, MJ Strong. Butterworth Heinemann, Philadelphia 2003; 17–50
   Google Scholar
• Wilson CM, Grace GM, Munoz DG, He BP, Strong MJ. Cognitive impairment in sporadic ALS. A pathological continuum underlying a multisystem disorder. Neurology. 2001; 57: 651–7
   PubMed Web of Science ®Google Scholar
• Yoshida M. Amyotrophic lateral sclerosis with dementia: the clinicopathological spectrum. Neuropathology. 2004; 24: 87–102
   PubMed Web of Science ®Google Scholar
• Noda K, Katayama S, Watanabe C, Yamamura Y, Nakamura S. Gallyas- and tau-positive glial structures in motor neuron disease with dementia. Clin Neuropath. 1999; 18: 218–25
   PubMed Web of Science ®Google Scholar
• Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, et al. The genetic and pathological classification of familial frontotemporal dementia. Arch Neurol. 2001; 58: 1813–6
   PubMedGoogle Scholar
• Ferrer I, Roig C, Espino A, Peiro G, Matias Guiu X. Dementia of frontal lobe type and motor neuron disease. A Golgi study of the frontal cortex. J Neurol Neurosurg Psychiat. 1991; 54: 932–4
   PubMed Web of Science ®Google Scholar
• Kato S, Oda M, Hayashi H, Kawata A, Shimizu T. Participation of the limbic system and its associated areas in the dementia of amyotrophic lateral sclerosis. J Neurol Sci. 1994; 126: 62–9
   PubMed Web of Science ®Google Scholar
• Kawashima T, Kikuchi H, Takita M, Doh-ura K, Ogomori K, Oda M, et al. Skein-like inclusions in the neostriatum from a case of amyotrophic lateral sclerosis with dementia. Acta Neuropathol. 1998; 96: 541–5
   PubMed Web of Science ®Google Scholar
• Munoz DG. The pathology of Pick complex. Pick's disease and Pick complex, A Kertesz, DG Munoz. John Wiley and Sons, New York 1998; 211–39
   Google Scholar
• Horoupian DS, Katzman R, Terry RD, Davies P, Hirano A, DeTersa R, et al. Dementia and motor neuron disease: morphometric, biochemical and Golgi studies. Ann Neurol. 1984; 16: 305–13
   PubMed Web of Science ®Google Scholar
• Brun A, Passant U. Frontal lobe degeneration of non-Alzheimer type. Acta Neurol Scand. 1996; 168: 28–30
   Google Scholar
• Giannakopoulos P, Hof PR, Bouras C. Dementia lacking distinctive histopathology: clinicopathological evaluation of 32 cases. Acta Neuropathol (Berl) 1995; 89: 346–55
   PubMed Web of Science ®Google Scholar
• Jackson M, Lowe J. The new neuropathology of degenerative frontotemporal dementias. Acta Neuropathol. 1996; 91: 127–34
   PubMed Web of Science ®Google Scholar
• Soni W, Luthert PJ, Leigh PN, Mann DMA. A morphometric study of the neuropathological substrate of dementia in patients with motor neuron disease. Neuropathology and Applied Neurobiology. 19, 203. 1993. Ref Type: Abstract.
   Google Scholar
• Okamoto K, Hirai S, Yamazaki T, Sun X, Nakazato Y. New ubiquitin-positive intraneuronal inclusions in the extramotor cortices in patients with amyotrophic lateral sclerosis. Neurosci Lett. 1991; 129: 233–6
   PubMed Web of Science ®Google Scholar
• Wightman G, Anderson VER, Martin J, Swash M, Anderton BH, Neary D, et al. Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett. 1992; 139: 269–74
   PubMed Web of Science ®Google Scholar
• Lowe J, Blanchard A, Morrell K, Lennox G, Reynolds L, Billett M, et al. Ubiquitin is a common factor in intermediate filament inclusion bodies of diverse type in man, including those of Parkinson's disease, Pick's disease, and Alzheimer's disease, as well as Rosenthal fibres in cerebellar astrocytomas, cytoplasmic bodies in muscle, and Mallory bodies in alcoholic liver disease. J Pathol. 1988; 155: 9–15
   PubMed Web of Science ®Google Scholar
• Sasaki S, Tsutsumi Y, Yamane K, Sakuma H, Maruyama S. Sporadic amyotrophic lateral sclerosis with extensive neurological involvement. Acta Neuropathol. 1992; 84: 211–5
   PubMed Web of Science ®Google Scholar
• Ikemoto A, Hirano A, Akiguchi I, Kimura J. Comparative study of ubiquitin immunoreactivity of hippocampal granular cells in amyotrophic lateral sclerosis with dementia, Guamanian amyotrophic lateral sclerosis and Guamanian Parkinsonism-dementia complex. Acta Neuropathol. 1997; 93: 265–70
   PubMed Web of Science ®Google Scholar
• Lowe J. New pathological findings in amyotrophic lateral sclerosis. J Neurol Sci. 1994; 124: 38–51
   PubMed Web of Science ®Google Scholar
• Mott RT, Dickson DW, Trojanowski JQ, Zhukareva V, Lee VM, Forman M, et al. Neuropathological, biochemical, and molecular characterization of the frontotemporal dementias. J Neuropathol Exp Neurol. 2005; 64: 420–8
   PubMed Web of Science ®Google Scholar
• Yang W, Sopper MM, Leystra-Lantz C, Strong MJ. Microtubule-associated tau protein positive neuronal and glial inclusions in amyotrophic lateral sclerosis. Neurology. 2003; 61: 1766–73
   PubMed Web of Science ®Google Scholar
• Forno LS, Langston JW, Herrick MK, Wilson JD, Murayama S. Ubiquitin-positive neuronal and tau 2-positive glial inclusions in frontotemporal dementia of motor neuron type. Acta Neuropathol. 2002; 103: 599–606
   PubMed Web of Science ®Google Scholar
• Martinaud O, Laquerrière A, Guyant-Maréchal L, Ahtoy P, Vera P, Sergeant N, et al. Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family. Acta Neuropathol. 2005; 110: 84–92
   PubMed Web of Science ®Google Scholar
• Yang W, Ang L-C, Strong MJ. Tau protein aggregation in the frontal and entorhinal cortices as a function of aging. Dev Brain Res. 2005; 156: 127–38
   PubMedGoogle Scholar
• Strong MJ, Yang W, Strong WL, Leystra-Lantz C, Jaffe H, Pant HC. Tau protein hyperphosphorylation in sporadic ALS with cognitive impairment. Neurology. 2006; 66: 1770–1
   PubMed Web of Science ®Google Scholar
• Yang W, Leystra-Lantz C, Strong MJ. Up-regulation of GSK3β expression in frontal and temporal cortex of ALS with cognitive impairment (ALSci). Brain Res. 2008; 1196: 131–9
   PubMed Web of Science ®Google Scholar
• Hirano A, Kurland LT, Krooth RS, Lessell S. Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features. Brain. 1961; 84: 642–61
   PubMed Web of Science ®Google Scholar
• Hirano A, Malamud N, Kurland LT. Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features. Brain. 1961; 84: 662–79
   PubMed Web of Science ®Google Scholar
• Plato CC, Reed DM, Elizan TS, Kurland LT. Amyotrophic lateral sclerosis/Parkinsonism-dementia complex of Guam. IV. Familial and genetic studies. Am J Hum Genet. 1967; 19: 617–32
   PubMed Web of Science ®Google Scholar
• McGeer PL, Schwab C, McGeer EG, Haddock RL, Steele JC. Familial nature and continuing morbidity of the amyotrophic lateral sclerosis-Parkinsonism dementia complex of Guam. Neurology. 1997; 47: 400–9
   Google Scholar
• Malamud N, Hirano A, Kurland LT. Pathoanatomic changes in amyotrophic lateral sclerosis on Guam. Arch Neurol. 1961; 5: 401–15
   PubMedGoogle Scholar
• Hirano A. Neuropathology of amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Proceedings of the fifth international congress of neuropathology, L Luthy, A Bischoff. Excerpta Medica, Amsterdam 1966; 190–4
   Google Scholar
• Hirano A, Arumugasamy N, Zimmerman HM. Amyotrophic lateral sclerosis. A comparison of Guam and classical cases. Arch Neurol. 1967; 16: 357–63
   PubMedGoogle Scholar
• Hirano A, Dembitzer HM, Kurland LT, Zimmerman HM. The fine structure of some intraganglionic alterations: neurofibrillary tangles, granulovacuolar bodies, and ‘rod-like’ structures in Guam amyotrophic lateral sclerosis and Parkinsonism-dementia complex. J Neuropathol Exp Neurol. 1968; 27: 167–82
   PubMed Web of Science ®Google Scholar
• Oyanagi K, Makifuchi T, Ohtoh T, Chen K-M, van der Schaff T, Gajdusek DC, et al. Amyotrophic lateral sclerosis of Guam: the nature of the neuropathological findings. Acta Neuropathol. 1994; 88: 405–12
   PubMed Web of Science ®Google Scholar
• Kuzuhara S, Kokubo Y, Sasaki R, Narita Y, Yabana T, Hasegawa M, et al. Familial amyotrophic lateral sclerosis and Parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. Ann Neurol. 2001; 49: 501–11
   PubMed Web of Science ®Google Scholar
• Rodgers-Johnson P, Garruto RM, Yanigahara R, Chen KM, Gajdusek DC, Gibbs CJ, Jr. Amyotrophic lateral sclerosis and Parkinsonism-dementia on Guam: a 30-year evaluation of clinical and neuropathological trends. Neurology. 1986; 36: 7–13
   PubMed Web of Science ®Google Scholar
• Shankar SK, Yanagihara R, Garruto RM, Grundke-Iqbal I, Kosik KS, Gajdusek DC. Immunocytochemical characterization of neurofibrillary tangles in amyotrophic lateral sclerosis and Parkinsonism-dementia of Guam. Ann Neurol. 1989; 25: 146–51
   PubMed Web of Science ®Google Scholar
• Buée-Scherrer V, Buée L, Hof PR, Leveugle B, Gilles C, Loerzel AJ, et al. Neurofibrillary degeneration in amyotrophic lateral sclerosis/Parkinsonism-dementia complex of Guam. Am J Pathol. 1995; 68: 924–32
   Google Scholar
• Yamazaki M, Arai Y, Baba M, Iwatsubo T, Mori O, Katayama Y, et al. Alpha-synuclein inclusions in amygdala in the brains of patients with the Parkinsonism-dementia complex of Guam. J Neuropathol Exp Neurol. 2000; 59: 585–91
   PubMed Web of Science ®Google Scholar
• Forman MS, Schmidt ML, Kasturi S, Perl DP, Lee VMY, Trojanowski JQ. Tau and α-synuclein pathology in amygdala of Parkinsonsim-dementia complex patients of Guam. Am J Pathol. 2002; 160: 1725–31
   PubMed Web of Science ®Google Scholar
• Kuzuhara S, Kokubo Y. Atypical Parkinsonism of Japan: amyotrophic lateral sclerosis-Parkinsonism-dementia complex of the Kii Peninsula of Japan (Muro Disease). An update. Movement Disorders. 2005; 12(Suppl)S108–13
   Google Scholar
• Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314: 130–3
   PubMed Web of Science ®Google Scholar
• Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Comm. 2006; 351: 602–11
   PubMed Web of Science ®Google Scholar
• Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Frontiers in Bioscience. 2008; 13: 867–78
   PubMed Web of Science ®Google Scholar
• Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem. 2001; 276: 36337–43
   PubMed Web of Science ®Google Scholar
• Wang H-Y, Wang I-F, Bose J, Shen CKJ. Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics. 2004; 83: 130–9
   PubMed Web of Science ®Google Scholar
• Ou S-HI, Wu F, Harrich D, García-Martínez LF, Gaynor RB. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol. 1995; 69: 3584–96
   PubMed Web of Science ®Google Scholar
• Buratti E, Dörk T, Zuccato E, Pagani F, Romano M, Baralle FE. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO. 2001; 20: 1774–84
   PubMed Web of Science ®Google Scholar
• Wang I-F, Reddy NM, Shen CKF. Higher order arrangement of the eukaryotic nuclear bodies. Proc Natl Acad Sci USA. 2002; 99: 13583–8
   PubMed Web of Science ®Google Scholar
• Zhang H, Tan C-F, Mori F, Tanji K, Kakita A, Takahashi H, et al. TDP-43-immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral scleorsis with and without dementia. Acta Neuropathol. 2008; 115: 115–22
   PubMed Web of Science ®Google Scholar
• Geser F, Brandmeir NJ, Kwong LK, Martinez-Lage M, Elman L, McCluskey L, et al. Amyotrophic lateral sclerosis is a multiple system TDP-43 proteinopathy. Arch Neurol. 2008. ( In press).
   PubMedGoogle Scholar
• Strong MJ, Volkening K, Hammond R, Yang W, Strong WL, Leystra-Lantz C, et al. TDP-43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci. 2007; 35: 320–7
   PubMed Web of Science ®Google Scholar
• Cairns NJ, Neumann M, Bigio EH, Holm IE, Troost D, Hatanpaa KJ, et al. TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. The American Journal of Pathology. 2007; 171: 227–40
   PubMed Web of Science ®Google Scholar
• Higashi S, Eizo I, Yamamoto R, Minegishi M, Hino H, Fujisawa K, et al. Appearance of TDP-43 in Japanese frontotemporal lobar degeneration with ubiquitin-positive inclusions. Neurosci Lett. 2007; 419: 213–8
   PubMed Web of Science ®Google Scholar
• Mackenzie IRA, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007; 61: 427–34
   PubMed Web of Science ®Google Scholar
• Geser F, Winton MJ, Kwong LK, Xu Y, Xie SX, Igaz LM, et al. Pathological TDP-43 in Parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol. 2008; 115: 133–45
   PubMed Web of Science ®Google Scholar
• Mishra M, Paunesku T, Woloschak GE, Siddique T, Zhu L, Lin S, et al. Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions. Acta Neuropathol. 2007; 114: 81–94
   PubMed Web of Science ®Google Scholar
• Snowden J, Neary D, Mann D. Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol. 2007; 114: 31–8
   PubMed Web of Science ®Google Scholar
• Davidson Y, Kelley T, Mackenzie IRA, Pickering-Brown S, Du Plessis D, Neary D, et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol. 2007; 113: 521–33
   PubMed Web of Science ®Google Scholar
• Probst A, Taylor KI, Tolnay M. Hippocampal sclerosis dementia: a reappraisal. Acta Neuropathol. 2007; 114: 335–45
   PubMed Web of Science ®Google Scholar
• Tan C-F, Eguchi H, Tagawa A, Onodera O, Iwasaki T, Tsujino A, et al. TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol. 2007; 113: 535–42
   PubMed Web of Science ®Google Scholar
• Robertson J, Sanelli T, Xiao S, Yang W, Horne P, Hammond R, et al. Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice show disparity with ALS. Neurosci Lett. 2007; doi:10.1016/j.neulet.2007.03.066.
   Web of Science ®Google Scholar
• Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2007; 66: 152–7
   PubMed Web of Science ®Google Scholar
• Nakashima-Yasuda H, Kunihiro U, Robinson J, Xie SX, Hurtig H, Duda JE, et al. Comorbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol. 2007; 114: 221–9
   PubMed Web of Science ®Google Scholar
• Rothstein JD. TDP-43 in amyotrophic lateral sclerosis: pathophysiology or patho-babel?. Ann Neurol. 2007; 61: 382–3
   PubMed Web of Science ®Google Scholar
• Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C, et al. A novel progranulin mutation associated with variable clinical presentation and tau, TDP-43 and alpha-synuclein pathology. Brain. 2007; 130: 1360–74
   PubMed Web of Science ®Google Scholar
• Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, et al. Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem. 2008; 283: 1744–53
   PubMed Web of Science ®Google Scholar
• Mackenzie IRA. The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol. 2007; 114: 49–54
   PubMed Web of Science ®Google Scholar
• Pickering-Brown SM. Progranulin and frontotemporal lobar degeneration. Acta Neuropathol. 2007; 114: 39–47
   PubMed Web of Science ®Google Scholar
• Zhang Y-J, Xu Y, Dickey CD, Buratti E, Baralle F, Bailey R, et al. Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci. 2007; 27: 10530–4
   PubMed Web of Science ®Google Scholar
• Gijselinck I, van der Zee J, Engelborghs S, Goossens D, Peeters K, Mattheijssens M, et al. Progranulin locus deletion in frontotemporal dementia. Human Mutation. 2008; 29: 53–8
   PubMed Web of Science ®Google Scholar
• Lee EB, Lee VMY, Trojanowski JQ, Neumann M. TDP-43 immunoreactivity in anoxic, ischaemic and neoplastic lesions of the central nervous system. Acta Neuropathol. 2008. ( In press).
   Web of Science ®Google Scholar
• Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci. 1994; 124(Suppl)96–107
   PubMed Web of Science ®Google Scholar
• Strong MJ, Grace GM, Lomen-Hoerth C, Leigh PN, Bruijn L, Ince P, . Frontotemporal syndromes in the motor neuron diseases. Dementia and Motor Neuron Disease, MJ Strong, et al. Taylor & Francis, New York 2006; 229–38
   Google Scholar
• Abrahams S, Leigh PN, Kew JJM, Goldstein LH, Lloyd CML, Brooks DJ. A positron emission tomography study of frontal lobe function (verbal fluency) in amyotrophic lateral sclerosis. J Neurol Sci. 1995; 129: 44–6
   PubMed Web of Science ®Google Scholar
• Dalakas MC, Hatazawa J, Brooks RA, Di Chiro G. Lowered cerebral glucose utilization in amyotrophic lateral sclerosis. Ann Neurol. 1987; 22: 580–6
   PubMed Web of Science ®Google Scholar
• Garraux G, Salmon E, Degueldre C, Lemaire C, Franck G. Medial temporal lobe metabolic impairment in dementia associated with motor neuron disease. J Neurol Sci. 1999; 168: 145–50
   PubMed Web of Science ®Google Scholar
• Jeong Y, Park KC, Cho SS, Kim EJ, Kang SJ, Kim SE, et al. Pattern of glucose hypometabolism in frontotemporal dementia with motor neuron disease. Neurology. 2005; 64: 734–6
   PubMed Web of Science ®Google Scholar
• Lloyd CM, Richardson MP, Brooks DJ, Al-Chalabi A, Leigh PN. Extramotor involvement in ALS: PET studies with the GABAA ligand [11C]flumazenil. Brain. 2000; 123: 2289–96
   PubMed Web of Science ®Google Scholar
• Takahashi H, Snow BJ, Bhatt MH, Peppard R, Eisen A, Calne DB. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning. Lancet. 1993; 342: 1016–8
   PubMed Web of Science ®Google Scholar
• Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet. 2001; 29: 166–73
   PubMed Web of Science ®Google Scholar
• Yang Y, Hentati A, Deng H-X, Dabbagh O, Sasaki T, Hirano M, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001; 29: 160–5
   PubMed Web of Science ®Google Scholar
• Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung W-Y, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 1994; 7: 425–8
   PubMed Web of Science ®Google Scholar
• Ben Hamida M, Hentati F, Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain. 1990; 113: 347–63
   PubMed Web of Science ®Google Scholar
• Hand CK, Khoris J, Salachas F, Gros-Louis F, Simoes Lopes AA, Mayeux-Portas V, et al. A novel locus for familial amyotrophic lateral sclerosis on chromosome 18q. Am J Hum Genet. 2002; 70: 251–6
   PubMed Web of Science ®Google Scholar
• Chen Y-Z, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004; 74: 1128–35
   PubMed Web of Science ®Google Scholar
• Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 1998; 2: 55–60
   PubMed Web of Science ®Google Scholar
• Abalkhail H, Mitchell J, Habgood J, Orrell R, de Belleroche J. A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. Am J Hum Genet. 2003; 73: 383–9
   PubMed Web of Science ®Google Scholar
• Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003; 73: 397–403
   PubMed Web of Science ®Google Scholar
• Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance D, Smith BN, et al. Two families with familal amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet. 2003; 73: 396
   Web of Science ®Google Scholar
• Nishimura AL, Mitne-Neto M, Silva HCA, Oliveira JRM, Vainzof M, Zatz M. A novel locus for late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. J Med Genet. 2004; 41: 315–20
   PubMed Web of Science ®Google Scholar
• Nishimura AL, Mitne-Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004; 75: 822–31
   PubMed Web of Science ®Google Scholar
• Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5”-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998; 393: 702–5
   PubMed Web of Science ®Google Scholar
• Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-Parkinsonism-amyotrophy complex. Neurology. 1994; 44: 1878–84
   PubMed Web of Science ®Google Scholar
• Wilhelmsen KC, Forman MS, Rosen HJ, Alving LI, Goldman J, Feiger J, et al. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and α-synuclein inclusions. Arch Neurol. 2004; 61: 398–406
   PubMed Web of Science ®Google Scholar
• Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, et al. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 2005; 64: 1578–85
   PubMed Web of Science ®Google Scholar
• Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Daube JR, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000; 284: 1664–9
   PubMed Web of Science ®Google Scholar
• Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006; 66: 839–44
   PubMed Web of Science ®Google Scholar
• Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain. 2006; 129: 868–76
   PubMed Web of Science ®Google Scholar
• Valdmanis PN, Dupre N, Bouchard J-P, Camu W, Meininger V, Strong MJ, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia have evidence of linkage to chromosome 9p. Arch Neurol. 2007; 64: 240–5
   PubMed Web of Science ®Google Scholar
• Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003; 33: 455–6
   PubMed Web of Science ®Google Scholar
• Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, et al. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet. 1995; 4: 1625–8
   PubMed Web of Science ®Google Scholar
• Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, et al. ALS phenotypes with mutations in CHMP2B (charges multivesicular body protein 2B). Neurology. 2006; 67: 1074–7
   PubMed Web of Science ®Google Scholar
• Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, et al. CHMPB2 mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett. 2006; 398: 83–4
   PubMed Web of Science ®Google Scholar
• Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, et al. CHMPB2 mutations are not a common cause of familial or sporadic ALS. J Neurol Neurosurg Psychiat. 2007; doi: 10.1136/jnnp/2007.140541.
   Web of Science ®Google Scholar
• Moulard B, Salachas F, Chassande B, Briolotti V, Meininger V, Malafosse A, et al. Association between cenromeric deletions of the SN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol. 1998; 43: 640–4
   PubMed Web of Science ®Google Scholar
• Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Muh JP, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol. 2002; 51: 243–6
   PubMed Web of Science ®Google Scholar
• Saeed M, Siddique N, Hung WY, Usacheva E, Liu E, Sufit RL, et al. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology. 2006; 67: 771–6
   PubMed Web of Science ®Google Scholar
• Slowik A, Tomik B, Wolkow PP, Partyka D, Turaj W, Malecki MT, et al. Paraoxonase gene polymorphisms and sporadic ALS. Neurology. 2006; 67: 738–9
   PubMed Web of Science ®Google Scholar
• Wills AM, Landers JE, Zhang H, Richter RJ, Caraganis AJ, Cudkowicz ME, et al. Paraoxonase 1 (PON 1) organophosphate hydrolysis is not reduced in ALS. Neurology. 2008; 70: 929–34
   PubMed Web of Science ®Google Scholar
• Gros-Louis F, Larivière RC, Gowing G, Laurent S, Camu W, Bouchard J-P, et al. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem. 2004. ( In press).
   PubMed Web of Science ®Google Scholar
• Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, et al. A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol. 2004; 14: 290–6
   PubMed Web of Science ®Google Scholar
• Gellera C, Colobrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, et al. Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics. 2008; 9: 33–40
   PubMed Web of Science ®Google Scholar
• Schymick JC, Talbot K, Traynor BJ. Genetics of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 2007; 16: 233–42
   PubMed Web of Science ®Google Scholar
• Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AMT, Varma A, Neary D, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain. 2006; 129: 3091–102
   PubMed Web of Science ®Google Scholar
• Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 2006; 442: 920–4
   PubMed Web of Science ®Google Scholar
• Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromsome 17. Nature. 2006; 442: 916–9
   PubMed Web of Science ®Google Scholar
• Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, et al. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Human Mutation. 2008; 29: 512–21
   PubMed Web of Science ®Google Scholar
• Ahmed Z, Mackenzie IRA, Hutton ML, Dickson DW. Progranulin in frontotemporal lobar degeneration and neuroinflammation. Journal of Neuroinflammation. 2007; 4: 20
   PubMed Web of Science ®Google Scholar