Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: Discrete entities or spectrum?

References

• 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
• Swash M, Desai J, Misra VP. What is primary lateral sclerosis? J Neurol Sci. 1999; 170:5–10.
   Google Scholar
• Rowland LP. Primary lateral sclerosis: disease, syndrome, both or neither? J Neurol Sci. 1999;170:1–4.
   Google Scholar
• Kuipers-Upmeijer J, de Jager AEJ, Hew JM, Snoek JW, van Weerden TW. Primary lateral sclerosis: clinical, neuro- physiological, and magnetic resonance findings. J Neurol Neurosurg Psychiat. 2001;71:615–20.
   PubMed Web of Science ®Google Scholar
• Le Forestier N, Maisonobe T, Piquard A, Rivaud S, Crevier- Buchman L, Salachas F, et al. Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature. Brain. 2001;124:1989–99.
   PubMed Web of Science ®Google Scholar
• Younger DS, Chou SM, Hays AP, Lange DJ, Emerson R, Brin M, et al. Primary lateral sclerosis: a clinical diagnosis reemerges. Arch Neurol. 1988;45:1304–7.
   PubMedGoogle Scholar
• Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992; 115:495–520.
   Google Scholar
• Zhai P, Pagan F, Statland J, Butman JA, Floeter MK. Primary lateral sclerosis. A heterogeneous disorder composed of different subtypes? Neurology. 2003;60:1258–65.
   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
• 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
• 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.
   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
• Strong MJ, Lomen-Hoerth C, Caselli RJ, Bigio EH, Yang W. Cognitive impairment, FTD and motor neuron disease. Ann Neurol. 2003; 54(Suppl 5):S20–3.
   Google Scholar
• Caselli RJ, Smith BE, Osborne D. Primary lateral sclerosis: a neuropsychological study. Neurology. 1995;45:2005–9.
   PubMed Web of Science ®Google Scholar
• Verma A, Bradley WG. Atypical motor neuron disease and related motor syndromes. Sem neurol. 2001;21:177–87.
   PubMed Web of Science ®Google Scholar
• Tan C-F, Kakita A, Piao Y-S, Kikugawa K, Endo K, Tanaka M, et al. Primary lateral sclerosis: a rare upper-motor-predominant form of amyotrophic lateral sclerosis often accompanied by frontotemporal lobar degen- eration with ubiquitinated inclusions? Report of an autopsy case and a review of the literature. Acta Neuropathol. 2003;105:615–20.
   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.
   Google Scholar
• Konagaya M, Sakai M, Matsuoka Y, Konagaya Y, Hashizume Y. Upper motor neuron predominant degenera- tion with frontal and temporal lobe atrophy. Acta Neuropathol. 1998;96:532–6.
   PubMed Web of Science ®Google Scholar
• Mochizuki A, Komastsuzaki Y, Shoji S. A case of fronto- temporal atrophy with ubiquitin inclusions presenting with upper motor neuron signs at onset followed by extrapyrami- dal signs and dementia. Neuropathology. 2002;33(1C):4.
   Google Scholar
• Tsuchiya K, Arai M, Matsuya S, Nishimura H, Ishiko T, Kondo H, et al. Sporadic amyotrophic lateral sclerosis resembling primary lateral sclerosis: report of an autopsy case and a review of the literature. Neuropathology. 1999;19:71–6.
   Google Scholar
• Sugihara H, Horiuchi M, Kamo T, Fujisawa K, Abe M, Sakiyama T, et al. A case of primary lateral sclerosis taking a prolonged clinical course with dementia and having an unusual dendritic ballooning. Neuropathology. 1999;19:77–84.
   PubMed Web of Science ®Google Scholar
• Harding AE. Hereditary ‘pure’ spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiat. 1981;44:871–83.
   PubMed Web of Science ®Google Scholar
• Fink JK, Heiman-Patterson T, The Hereditary Spastic Paraplegia Working Group. Hereditary spastic paraplegia: advances in genetic research. Neurology. 1996;46:1507–14.
   Google Scholar
• Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184:S106–10.
   PubMed Web of Science ®Google Scholar
• Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003;40:81–6.
   PubMed Web of Science ®Google Scholar
• Du¨ rr A, Brice A, Serdaru M, Rancurel G, Derouesne´ C, Lyon-Caen O, et al. The phenotype of ‘pure’ autosomal dominant spastic paraplegia. Neurology. 1994;44:1274–7.
   Google Scholar
• Reid E, Grayson C, Rogers MT, Rubinsztein DC. Locus- phenotype correlations in autosomal dominant pure heredi- tary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. Brain. 1999;122:1741–55.
   Google Scholar
• Strong MJ. The basic aspects of therapuetics in amyotrophic lateral sclerosis. Pharmacol Ther. 2003;98:379–414.
   PubMed Web of Science ®Google Scholar
• Strong MJ, Hudson AJ, Alvord WG. Familial amyotrophic lateral sclerosis, 1850–1989: a statistical analysis of the world literature. Can J Neurol Sci. 1991;18:45–58.
   PubMed Web of Science ®Google Scholar
• Eisen A, Schulzer M, MacNeil M, Pant B, Mak E. Duration of amyotrophic lateral sclerosis is age dependent. Muscle Nerve. 1993;16:27–32.
   PubMed Web of Science ®Google Scholar
• Jablecki CK, Berry C, Leach J. Survival prediction in amyotrophic lateral sclerosis. Muscle Nerve. 1989;12:833–41.
   PubMed Web of Science ®Google Scholar
• Worms PM. The epidemiology of motor neuron diseases: a review of recent studies. J Neurol Sci. 2001;191:3–9.
   PubMed Web of Science ®Google Scholar
• World Federation of Neurology Research Group on Neuromuscular Disease. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci. 1994; 124(suppl):96–107.
   Google Scholar
• Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Amyotrophic lateral sclerosis mimic syndromes. Arch Neurol. 2000;57:109–13.
   PubMed Web of Science ®Google Scholar
• Belsh JM, Schiffman PL. The amyotrophic lateral sclerosis (ALS) patient perspective on misdiagnosis and its repercus- sions. J Neurol Sci. 1996; 139(suppl):110–6.
   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
• Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
   PubMed Web of Science ®Google Scholar
• Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Kera¨nen M-L, et al. Autosomal recessive adult-onset amyo- trophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain. 1996;119:1153–72.
   Google Scholar
• Andersen PM, Nilsson P, Kera¨nen M-L, Forsgren L, Ha¨gglund J, Karlsborg M, et al. Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn-superoxide dismutase mutations in Scandinavia. Brain. 1997;120:1723–37.
   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
• Hulette CM, Pericak-Vance MA, Roses AD, Schmechel DE, Yamaoka LH, Gaskell PC, et al. Neuropathological features of frontotemporal dementia and Parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684. J Neuropathol Exp Neurol. 1999;58:859–66.
   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
• 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
• 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
• 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. Nat Genet. 2001;29:166–73.
   PubMed Web of Science ®Google Scholar
• Chou SM. Neuropathology of amyotrophic lateral sclerosis: new perspectives on an old disease. J Formos Med Assoc. 1997;96:488–98.
   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
• 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
• Atkinson JLD, Miller GM, Krauss WE, Marsh WR, Piepgras DG, Atkinson PP, et al. Clinical and radiographic features of dural arteriovenous fistula, a treatable cause of myelopathy. Mayo Clin Proc. 2001;76:1120–30.
   PubMed Web of Science ®Google Scholar
• Kumar N, Crum B, Petersen RC, Vernino SA, Ahlskog JE. Copper deficiency myelopathy. Arch Neurol. 2004;61:762–6.
   PubMed Web of Science ®Google Scholar
• Tshala-Katumbay D, Eeg-Olofsson KE, Kazadi-Kayembe T, Tylleska¨r T, Fa¨llmar P. Analysis of motor pathway involve- ment in Konzo using transcranial electrical and magnetic stimulation. Muscle Nerve. 2002;25:230–5.
   PubMed Web of Science ®Google Scholar
• Sreeja VG, Nagahara N, Li Q, Minami M. New aspects in pathogenesis of Konzo: neural cell damage directly caused by linamarin contained in cassava (Manihot esculenta Crantz). Brit J Nutr. 2003;90:467–72.
   PubMedGoogle Scholar
• Reid E. The hereditary spastic paraplegias. J Neurol. 1999;246:995–1003.
   PubMed Web of Science ®Google Scholar
• Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, et al. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003;73:1147–56.
   PubMed Web of Science ®Google Scholar
• El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung W-Y, et al. Phenotypic features and genetic findings in Sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol. 2003;60:982–8.
   PubMedGoogle Scholar
• Engert JC, Be´rube´ P, Mercier J. ARSACS, a spastic ataxia common in north-eastern Quebec, is caused by mutations in a new gene encoding a 11.5-kb ORF. Nat Genet. 2000;24:120–5.
   Google Scholar
• Rizzo WB, Carney G, Lin Z. The molecular bais of Sjo¨ gren- Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999;65:1547–60.
   PubMed Web of Science ®Google Scholar
• Willemsen MAAP, Ijlst L, Steijlen PM, Rotteveel JJ, de Jong JGN, van Domburg PHMF, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjo¨ gren-Larsson syndrome. Brain. 2001;124:1426–37.
   PubMed Web of Science ®Google Scholar