125
Views
12
CrossRef citations to date
0
Altmetric
Review

Genetics of neurological disorders

, &
Pages 317-332 | Published online: 09 Jan 2014

References

  • Campion D, Dumanchin C, Hannequin D et al. Early-onset autosomal dominant Alzheimer's disease: prevalence, genetic heterogeneity and mutation spectrum. Am. J Hum. Genet. 65,664–670 (1999).
  • Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl. J Med. 348,1356–1364 (2003).
  • ••Describes the molecular pathways, genemutations and pathology of Parkinson's (PD) and Alzheimer's disease (AD).
  • Farrer LA, Cupples LA, Haines JL et al. Effects of age, sex and ethnicity on the association between apolipoprotein E genotype and Alzheimer's disease. A meta-analysis. APOE and Alzheimer's disease Meta Analysis Consortium. JAMA 278,1349–1356 (1997).
  • Roks G. Alzheimer's disease. Present and future role of genetics. Tfidschr Gerontol. Geriab: 34,13-20 (2003).
  • Murrell JR, Hake AM, Quaid KA, Farlow MR, Ghetti B. Early-onset Alzheimer's disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Arch. Neurol. 57,885-887 (2000).
  • De Jonghe C, Esselens C, Kumar-Singh S et al. Pathogenic APP mutations near the y-secretase cleavage site differentially affect Al3 secretion and APP C-terminal fragment stability. Hum. MoL Genet. 10,1665-1671 (2001).
  • Nunan J, Small DH. Proteolytic processing of the amyloid-0 protein precursor of Alzheimer's disease. Essays Biochem. 38, 37–49 (2002).
  • Iwatsubo T, Odaka A, Suzuki N, Mizusawa H, Nukina N, Ihara Y. Visualization of A042(43) and A040 in senile plaques with end-specific Al3 monoclonals: evidence that an initially deposited species is A042(43). Neuron 13, 45–53 (1994).
  • Steiner H, Haass C. Intramembrane proteolysis by presenilins. Nature Rev MoL Cell. Biol. 1, 217–224 (2000).
  • Hutton M, Perez-Tur J, Hardy J. Genetics of Alzheimer's disease. Essays Biochem. 33,117–131 (1998).
  • Martin JB. Molecular basis of the neurodegenerative disorders. N Engl. J. Med. 340,1970–1980 (1999).
  • ••Describes schematically the molecularmechanism of the pathogenesis of AD.
  • Saito T, Takaki Y, Iwata N, Trojanowski J, Saida TC. Alzheimer's disease, neuropeptides, neuropeptidase and amyloid-0 peptide metabolism. Sci. Aging Knowledge Environ. 2003(3), PE 1 (2003).
  • Schupf N, Sergievsky GH. Genetic and host factors for dementia in Down's syndrome. Br. J. Psychiatry180, 405–410 (2002).
  • Peacock ML, Murman DL, Sima AA, Warren JT Jr, Roses AD, Fink JK. Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Ann. Neurol. 35,432-438 (1994).
  • Miklossy J, Taddei K, Suva D et al. Two novel presenilin-1 mutations (Y2565 and Q222H) are associated with early-onset Alzheimer's disease. Neurobiol. Aging 24,655–662 (2003).
  • Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and y-secretase activity. Nature 398,513–517 (1999).
  • Scheuner D, Eckman C, Jensen M etal. Secreted amyloid 0-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med. 2, 864–870 (1996).
  • Takao M, Ghetti B, Hayakawa I et al. A novel mutation (G217D) in thepresenilin 1 gene (FSEN1) in a Japanese family: presenile dementia and Parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta NeuropathoL 104,155–170 (2001).
  • Theuns J, Del Favero J, Dermaut B et aL Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum. MoL Genet. 9,325-331 (2000).
  • Matsubara-Tsutsui M, Yamagata H, Morishima A et aL The 4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers. Intern. Med. 41, 823–828 (2002).
  • Colacicco AM, Panza F, Basile AM et aL F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease. Eur. NeuroL 47, 209–213 (2002).
  • Katayama T, Manabe T, Tohyama M. Recent progress in HMGA la which causes aberrant splicing of presenilin-2 pre-mRNA in sporadic Alzheimer's disease. Nippon Rinsho 61,677–688 (2003).
  • Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 297,353–356 (2002).
  • •Describes the pathological pathways in AD.
  • Seshadri S, Drachman DA, Lippa CF. Apolipoprotein E epsilon 4 allele and the lifetime risk of Alzheimer's disease. What physicians know and what they should know. Arch. NeuroL 52,1074–1079 (1995).
  • •Explains epidemiology of AD in detail.
  • Strittmatter WJ, Roses AD. Apolipoprotein E and Alzheimer's disease. Ann. Rev NeuroscL 19,53-77 (1996).26 Selkoe DJ, Schenk D. Alzheimer's disease: molecular understanding predicts amyloid-based therapeutics. Ann. Rev PharmacoL ToxicoL 43,545–584 (2003).
  • •Describes in detail the pathology of AD.
  • Gomez-Ramos P, Mufson EJ, Moran MA. Apolipoprotein E irnmunoreactivity in neurons and neurofibrillary degeneration of aged non-demented and Alzheimer's disease patients. Microsc. Res. Tech. 55,48–58 (2001).
  • Cummings JL, Vinters HV, Cole GM, Khachaturian ZS. Alzheimer's disease: etiologies, pathophysiology, cognitive reserve and treatment opportunities. Neurology51, S2—S17 (1998).
  • Tan EK, Khajavi M, Thornby JI, Nagamitsu S, Jankovic J, Ashizawa T. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology55,533–538 (2000).
  • Blacker D, Wilcox MA, Laird NM et al. a-2 macroglobulin is genetically associated with Alzheimer's disease. Nature Genet. 19, 357–360 (1998).
  • Luedecking-Zimmer E, DeKosky ST, Chen Q, Barmada MM, Kamboh MI. Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12. Hum. Genet. 111,443-451 (2002).
  • Crawford FC, Freeman MJ, Schinka JA et al. A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease. Neurology55, 763–768 (2000).
  • Beyer K, Lao JI, Latorre P et al. Methionine synthase polymorphism is a risk factor for Alzheimer's disease. Neuroreport 14, 1391–1394 (2003).
  • Urakami K, Wakutani Y, Wada-Isoe K, Yamagata K, Adachi Y, Nakashima K. Analysis of causative genes and genetic risk factor in Alzheimer's disease. Nippon Ronen Igakkai Zasshi 38,769–771 (2001).
  • Kunugi H, Ueki A, Otsuka M et al. A novel polymorphism of the brain-derived neurotrophic factor (BDNF) gene associated with late-onset Alzheimer's disease. MoL Psychiatry6,83–86 (2001).
  • Kawamata J, Shimohama S. Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. J Alzheimer s Dis. 4,71–76 (2002).
  • Bertram L, Tanzi RE. Of replications and refutations: the status of Alzheimer's disease genetic research. CUIT: NeuroL Neurosci. Rep. 1,442–450 (2001).
  • ••Extensive and complete review on AD.
  • Prince JA, Feuk L, Gu HF et al. Genetic variation in a haplotype block spanning IDE influences Alzheimer's disease. Hum. Mutat 22,363–371 (2003).
  • Matsubara M, Yamagata H, Kamino K et al. Genetic association between Alzheimer's disease and the a-synuclein gene. Dement. Geriatr. Cogn. Disord. 12, 106–109 (2001).
  • Grasbon-Frodl EM, Kosel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB. Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson's disease. Neurogenetics 2,121–127 (1999).
  • Lukiw WJ, Bazan NG. Neuroinflammatory signaling upregulation in Alzheimer's disease. Neurochem. Res. 25,1173–1184 (2000).
  • Bagli M, Papassotiropoulos A, Knapp M etal. Association between an interleukin-6 promoter and 3' flanking region haplotype and reduced Alzheimer's disease risk in a German population. Neurosci. Lett. 283, 109–112 (2000).
  • Saunders AM, Hulette 0, Welsh-Bohmer KA etal. Specificity, sensitivity and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet 348,90–93 (1996).
  • Yan Q, Zhang J, Liu H etal. Anti-inflammatory drug therapy alters (3-amyloid processing and deposition in an animal model of Alzheimer's disease. Neurosci. 23,7504-7509 (2003).
  • Chapman PF, Falinska AM, Knevett SG, Ramsay ME Genes, models and Alzheimer's disease. Trends Genet. 17, 254–261 (2001).
  • •Describes various mutations within genes and corresponding proteins and the implication of these changes in the pathogenesis of AD.
  • Morgan D. Antibody therapy for Alzheimer's disease. Expert Rev Vaccines 2, 53–59 (2003).
  • Birmingham K, Frantz S. Set back to Alzheimer vaccine studies. Nature Med. 8, 199–200 (2002).
  • Schenk D, Seubert P, Ciccarelli RB. Immunotherapy with (3-amyloid for Alzheimer's disease: a new frontier. DNA Cell Biol. 20,679-681 (2001).
  • Morgan D, Diamond DM, Gottschall PE etal. A 13 peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. Nature 408,982–985 (2000).
  • Schenk D, Barbour R, Dunn W etal. Immunization with arnyloid-13 attenuates Alzheimer-disease-like pathology in the PDAPP mouse. Nature 400,173–177 (1999).
  • Lynch T, Sano M, Marder KS etal. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology44,1878–1884 (1994).
  • Yancopoulou D, Crowther RA, Chakrabarti L, Gydesen S, Brown JM, Spillantini MG. Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). I NeuropathoL Exp. NeuroL 62,878–882 (2003).
  • Katsuragi S, Teraoka K, Ikegami K et aL Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure. Psychiatry Clin. Neurosci. 54,487–492 (2000).
  • Arai H, Higuchi S, Muramatsu T, Iwatsubo T, Sasaki H, Trojanowski JQ. Apolipoprotein E gene in diffuse Lewy body disease with or without coexisting Alzheimer's disease. Lancet344,1307 (1994).
  • Nacmias B, Tedde A, Guarnieri BM etal. Analysis of apolipoprotein E, al-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man. Neurosci. Lett. 229,177-180 (1997).
  • Sveinbjornsdottir S, Hicks AA, Jonsson T et aL Familial aggregation of Parkinson's disease in Iceland. N EngL J Med. 343, 1765–1770 (2000).
  • Tanner CM, Ottman R, Goldman SM et al. Parkinson's disease in twins: an etiologic study. JAMA 281,341–346 (1999).
  • •Explains the penetrance and epidemiology of genetic forms of PD.
  • Farrer M, Gwinn-Hardy K, Hutton M, Hardy J. The genetics of disorders with synuclein pathology and Parkinsonism. Hum. MoL Genet. 8,1901–1905 (1999).
  • Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M. a-Synuclein in Lewy bodies. Nature 388, 839–840 (1997).
  • •Observations and descriptions of pathogenesis and molecular mechanisms leading to PD.
  • Kruger R, Kuhn W, Muller T et aL Ala30Pro mutation in the gene encoding a-synuclein in Parkinson's disease. Nature Genet. 18,106–108 (1998).
  • Polymeropoulos MH, Higgins JJ, Golbe LI et aL Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274,1197–1199 (1996).
  • Polymeropoulos MH, Lavedan C, Leroy E et aL Mutation in the a-synuclein gene identified in families with Parkinson's disease. Science 276,2045–2047 (1997).
  • Tu PH, Galvin JE, Baba M et aL Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble a-synuclein. Ann. NeuroL 44,415–422 (1998).
  • Tan EK, Tan C, Shen H et al. a-synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability. Neurosci. Lett. 336,70–72 (2003).
  • Singleton AB, Farrer M, Johnson J et aL a-synuclein locus triplication causes Parkinson's disease. Science 302,841 (2003).
  • Goldberg MS, Fleming SM, Palacino JJ et aL Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J. Biol. Chem. 278, 43628–43635 (2003).
  • Masliah E, Rockenstein E, Veinbergs I et al. Dopaminergic loss and inclusion body formation in a-synuclein mice: implications for neurodegenerative disorders. Science 287,1265–1269 (2000).
  • Matsuoka Y, Vila M, Lincoln S et al. Lack of nigral pathology in transgenic mice expressing human a-synuclein driven by the tyrosine hydroxylase promoter. NeurobioL Dis. 8,535–539 (2001).
  • Greene JC, Whitworth AJ, Kuo I, Andrews LA, Feany MB, Pallanck U. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proc. Natl Acad. Sci. USA 100, 4078–4083 (2003).
  • Feany MB, Bender WW. A Drosophila model of Parkinson's disease. Nature 404, 394–398 (2000).
  • •Describes animal models for the study of complex neurodegenerative diseases.
  • Lakso M, Vartiainen S, Moilanen AM et al. Dopaminergic neuronal loss and motor deficits in Caenorhabditis elegans overexpressing human a-synuclein. Neurochem. 86,165–172 (2003).
  • Shulman JM, Shulman LM, Weiner WJ, Feany MB. From fruit fly to bedside: translating lessons from Drosophila models of neurodegenerative disease. CUIT: Opin. NeuroL 16,443–449 (2003).
  • Dou F, Netzer WJ, Tanemura K et al. Chaperones increase association of tau protein with microtubules. Proc. Natl Acad. Sci. USA 100,721–726 (2003).
  • McLean PJ, Kawamata H, Shariff S et al. Torsin A and heat shock proteins act as molecular chaperones: suppression of a-synuclein aggregation. J. Neurochem. 83, 846–854 (2002).
  • Bonini NM. Chaperoning brain degeneration. Proc. Natl Acad. Sci. USA 99\(Suppl. 4), 16407–16411 (2002).
  • Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM. Chaperone suppression of a-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295,865–868 (2002).
  • Kitada T, Asakawa S, Hattori N et al. Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392,605–608 (1998).
  • Matsumine H, Saito M, Shimoda-Matsubayashi S et al. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am. J Hum. Genet. 60,588-596 (1997).
  • Hilker R, Klein C, Ghaemi M et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the parkin gene. Ann. NeuroL 49,367–376 (2001).
  • Farrer M, Chan P, Chen R et aL Lewy bodies and Parkinsonism in families with parkin mutations. Ann. NeuroL 50, 293–300 (2001).
  • Cookson MR. Parkin's substrates and the pathways leading to neuronal damage. Neuromolecular Med. 3,1–13 (2003).
  • •Involvement of specific proteins in neurodegeneration, which occurs during progressive PD.
  • Leroy E, Boyer R, Auburger G et al. The ubiquitin pathway in Parkinson's disease. Nature 395,451–452 (1998).
  • •Describes mutant proteins, their mechanism and implications in metabolic pathways leading to PD.
  • Shimura H, Schlossmacher MG, Hattori N et al. Ubiquitination of a new form of a-synuclein by parkin from human brain: implications for Parkinson's disease. Science 293,263-269 poly
  • Klein C. The genetics of Parkinson syndrome. Schweiz. Rundsch. Med. Prax. 90,1015–1023 (2001).
  • ••A comprehensive review of PD.
  • Wintermeyer P, Kruger R, Kuhn W et al. Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreportll, 2079-2082 (2000).
  • El Agnaf OM, Jakes R, Curran MD, Wallace A. Effects of the mutations A1a30 to Pro and Ala53 to Thr on the physical and morphological properties of a-synuclein protein implicated in Parkinson's disease. FEBS Lett. 440,67–70 (1998).
  • Lennox G, Lowe J, Morrell K, Landon M, Mayer RJ. Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease. NeuroL Neurosurg. Psychiatry52,67–71 (1989).
  • Shimura H, Hattori N, Kubo S et al. Familial Parkinson's disease gene product, parkin, is a ubiquitin-protein ligase. Nature Genet. 25,302–305 (2000).
  • •Describes pathological processes leading to PD.
  • Van Duijn CM, Dekker MC, Bonifati V et al. Park7, a novel locus for autosomal recessive early-onset Parkinsonism, on chromosome 1p36. Am. J Hum. Genet. 69, 629–634 (2001).
  • Bonifati V, Rizzu P, van Baren MJ et al Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299,256–259 (2003).
  • Farrer M, Gwinn-Hardy K, Muenter M etal. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum. Md. Genet. 8,81-85 (1999).
  • Gasser T, Muller-Myhsok B, Wszolek ZK et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nature Genet. 18,262–265 (1998).
  • Valente EM, Bentivoglio AR, Dixon PH et al. Localization of a novel locus for autosomal recessive early-onset Parkinsonism, PARK6, on human chromosome 1p35-p36. Am. j Hum. Genet. 68,895-900 (2001).
  • Hardy J, Cookson MR, Singleton A. Genes and Parkinsonism. Lancet Neurol 2, 221–228 (2003).
  • Hicks AA, Petursson H, Jonsson T et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol 52,549–555 (2002).
  • Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata E A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann. Neurol 51,296–301 (2002).
  • Zimprich A, Muller-Myhsok B, Farrer M et al. The PARK8 locus in autosomal dominant Parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am. I Hum. Genet. 74,11-19 (2004).
  • Le WD, Xu P, Jankovic J et al. Mutations in NR4A2 associated with familial Parkinson's disease. Nature Genet. 33,85–89 (2003).
  • Clayton DF, George JM. Synucleins in synaptic plasticity and neurodegenerative disorders. j Neurosci. Res. 58,120-129 (1999). too Conway KA, Lee SJ, Rochet JC, Ding TT, Williamson RE, Lansbury PT Jr. Acceleration of oligomerization, not fibrillization, is a shared property of both a-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc. Natl Acad. Sci. USA 97,571–576 (2000).
  • Hardy J. Pathways to primary neurodegenerative disease. Neurologia 17, 399–401 (2002).
  • ••Extensive review of genes implicated in PD.
  • Chung KK, Zhang Y, Lim KL et al. Parkin ubiquitinates the a-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson's disease. Natum Med. 7,1144–1150 (2001).
  • Tanaka Y, Engelender S, Igarashi S et al. Inducible expression of mutant a-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis. Hum. Ma. Genet. 10,919–926 (2001).
  • Stefanis L, Larsen KE, Rideout HJ, Sulzer D, Greene LA. Expression of A53T mutant but not wild type a-synuclein in PC12 cells induces alterations of the ubiquitin-dependent degradation system, loss of dopamine release and autophagic cell death. j Neurosci. 21,9549-9560 (2001).
  • France-Lanord V, Brugg B, Michel PP, Agid Y, Ruberg M. Mitochondrial free radical signal in ceramide-dependent apoptosis: a putative mechanism for neuronal death in Parkinson's disease. Neurochem. 69,1612–1621 (1997).
  • ••Describes the pathology of PD.
  • Gwinn-Hardy K. Genetics of Parkinsonism. Mow Disord. 17,645–656 (2002).
  • •Contains a very good explanation about the roles of different reported mutations and their influence in PD pathogenesis.
  • Langston JW, Ballard P, Tetrud JW, Irwin I. Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219,979–980 (1983).
  • Gambaro G, Anglani F, D'Angelo A. Association studies of genetic polymorphisms and complex disease. Lancet 355,308–311 (2000).
  • Markopoulou K, Langston JW. Candidate genes and Parkinson's disease: where to next? Neurology53, 1382–1383 (1999).
  • Abbott RD, Ross GW, White LR etal. Environmental, life-style and physical precursors of clinical Parkinson's disease: recent findings from the Honolulu-Asia Aging Study. I Neurol 250 (Suppl. 3), 11130–11139 (2003). iii Baldereschi M, Di Carlo A, Vanni P et al Lifestyle-related risk factors for Parkinson's disease: a population-based study. Acta Neurol Scand. 108,239-244 (2003).
  • •Importance of environmental risk factors involved in etiology and pathology of complex diseases, with particular reference to PD.
  • Baldi I, Cantagrel A, Lebailly P et al. Association between Parkinson's disease and exposure to pesticides in southwestern France. Neuroepidemiology22, 305–310 (2003).
  • Hernan MA, Chen H, Schwarzschild MA, Ascherio A. Alcohol consumption and the incidence of Parkinson's disease. Ann. Neurol 54,170–175 (2003).
  • Lucking CB, Abbas N, Dun A et al Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile Parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's disease and the French Parkinson's disease Genetics Study Group. Lancet352, 1355–1356 (1998).
  • Nussbaum RL, Polymeropoulos MH. Genetics of Parkinson's disease. Hum. Md. Genet. 6,1687–1691 (1997).
  • Majoor-Krakauer D, Willems PJ, Hofman A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin. Genet. 63,83–101 (2003).
  • Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology43,791–794 (1993).
  • Cacabelos R, Alvarez A, Fenandez-Novoa L, Lombardi VR. A pharmacogenomic approach to Alzheimer's disease. Acta Neurol Scand. Suppl. 176,12–19 (2000).
  • Cacabelos R. The application of functional genomics to Alzheimer's disease. Pharmacogenomics 4,597–621 (2003).
  • Cacabelos R. Pharmacogenomics for the treatment of dementia. Ann. Med. 34, 357–379 (2002).
  • Kirchheiner J, Bertilsson L, Bruus H, Wolff A, Roots I, Bauer M. Individualized medicine — implementation of pharmacogenetic diagnostics in antidepressant drug treatment of major depressive disorders. Pharmacopsychiatry 36\(Suppl. 3), S235—S243 (2003).
  • Teter B, Xu PT, Gilbert JR, Roses AD, Galasko D, Cole GM. Defective neuronal sprouting by human apolipoprotein E4 is a gain-of-negative function. j Neurosci. Res. 68,331-336 (2002).
  • Arranz MJ, Kerwin RW. Advances in the pharmacogenetic prediction of antipsychotic response. Toalcology192, 33–35 (2003).
  • Pickar D. Pharmacogenomics of psychiatric drug treatment. Psychiatr. Clin. North Am. 26,303–321 (2003).
  • Basile VS, Masellis M, Potkin SG, Kennedy JL. Pharmacogenomics in schizophrenia: the quest for individualized therapy. Hum. Ma. Genet. 11,2517–2530 (2002).
  • Noble ER D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am. j Med. Genet. 116B, 103–125 (2003).
  • Noble EP The DRD2 gene in psychiatric and neurological disorders and its phenotypes. Pharmacogenomicsl, 309–333 (2000).
  • Siddiqui A, Kerb R, Weale ME et al. Association of multi-drug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl. I Med. 348,1442-1448 (2003).
  • Sherrington R, Rogaev El, Liang Y et aL Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754–760 (1995).
  • Levy-Lahad E, Wasco W, Poorkaj P et aL Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269,973–977 (1995).
  • Goate A, Chartier-Harlin MC, Mullan M et aL Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349, 704–706 (1991).
  • Saunders AM, Strittmatter WJ, Schmechel D et al. Association of apolipoprotein E allele e4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43, 1467–1472 (1993).
  • Hutton M, Lendon CL, Rizzu P et aL Association of missense and 5 '-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702–705 (1998).
  • D'Souza I, Poorkaj P, Hong M et al. Missense and silent tau gene mutations cause frontotemporal dementia with Parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl Acad. Sci. USA 96,5598–5603 (1999).
  • Poorkaj P, Muma NA, Zhukareva V et al. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann. NeuroL 52,511–516 (2002).
  • Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten JC. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am.jPathol. 153,1359–1363 (1998).
  • Murrell JR, Spillantini MG, Zolo P et al. Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. NeuropathoL Exp. NeuroL 58,1207–1226 (1999).
  • Kobayashi T, Ota S, Tanaka K etal. A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. Ann. NeuroL 53,133–137 (2003).
  • Rosso SM, van Herpen E, Deelen W et aL A novel tau mutation causes a tauopathy with inclusions similar to those in Pick's disease. Ann. NeuroL 51,373–376 (2002).
  • Neumann M, Schulz-Schaeffer W, Crowther RA et al. Pick's disease associated with the novel Tau gene mutation K369I. Ann. NeuroL 50,503–513 (2001).
  • Lippa CF, Zhukareva V, Kawarai T et al. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann. NeuroL 48,850–858 (2000).
  • Sperfeld AD, Collatz MB, Baier H et al. FTDP-17: an early-onset phenotype with Parkinsonism and epileptic seizures caused by a novel mutation. Ann. NeuroL 46, 708–715 (1999).
  • Iijima M, Tabira T, Poorkaj P et aL A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport10, 497–501 (1999).
  • Kowalska A, Hasegawa M, Miyamoto K et al. A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17. I AppL Genet. 43, 535–543 (2002).
  • Hayashi S, Toyoshima Y, Hasegawa M et al. Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann. NeuroL 51,525–530 (2002).
  • Miyamoto K, Kowalska A, Hasegawa M et al. Familial frontotemporal dementia and Parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann. NeuroL 50,117–120 (2001).
  • Spillantini MG, Yoshida H, Rizzini C et al. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann. NeuroL 48,939–943 (2000).
  • Yasuda M, Takamatsu J, D'Souza I et aL A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto). Ann. NeuroL 47,422–429 (2000).
  • Stanford PM, Halliday GM, Brooks WS etal. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 123\(Pt 5), 880–893 (2000).
  • van Herpen E, Rosso SM, Serverijnen LA et al. Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Ann. NeuroL 54,573–581 (2003).
  • Iseki E, Matsumura T, Marui W et al. Familial frontotemporal dementia and Parkinsonism with a novel N2 96H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. Acta NeuropathoL 102,285–292 (2001).
  • Rosen DR, Siddique T, Patterson D etal. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993).
  • Hadano S, Yanagisawa Y, Skaug J et al. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2 and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics 71,200–213 (2001).
  • Sapp PC, Hosier BA, McKenna-Yasek D et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. j Hum. Genet. 73, 397–403 (2003).
  • Hand CK, Khoris J, Salachas F et al. A novel locus for familial amyotrophic lateral sclerosis on chromosome 18q. Am. Hum. Genet. 70,251-256 (2002).
  • Hosier BA, Siddique T, Sapp PC etal. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 284, 1664–1669 (2000).
  • Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. Hum. Genet. 55,1159-1165 (1994).
  • Hentati A, Ouahchi K, Pericak-Vance MA et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2,55–60 (1998).
  • Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology 43,791-794 (1993). Affiliations

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.