Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future

References

• Woodworth JA, Beckett RS, Netsky MG. A composite of hereditary ataxias. Arch. Int. Med. 104,594–606 (1959).
   Google Scholar
• Marie P. Sur l'heredo-ataxie cerebelleuse. Sem. Med. Atis)13,444–447 (1893).
   Google Scholar
• Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1, 1151–1155 (1983). A simple classification scheme that is often cited and remains of clinical relevance.
   Google Scholar
• O'Hearn E, Molliver M. Organizational principles and microcircuitry of the cerebellum. Int. Rev. PTchiatry13, 232–246 (2001).
   Google Scholar
• •Excellent review of the organization of the cerebellum.
   Google Scholar
• van de Warrenburg BR Autosomal dominant cerebellar ataxias in The Netherlands: a national inventory. Ned. Tydschr Geneeskd 145,962–967 (2001).
   PubMedGoogle Scholar
• Brignolio F, Leone M, Tribolo A etal Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy. Ital. Neural Sci. 7,431–435 (1986).
   PubMedGoogle Scholar
• Leone M, Bottacchi E, D'Alessandro G, Kustermann S. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta Neural. Scand. 91,183-187 (1995).
   Google Scholar
• Polo JM, Calleja J, Combarros 0, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 114 (Pt 2), 855–866 (1991).
   Google Scholar
• Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. J. Orin. Epidemial 50,1377–1384 (1997).
   PubMed Web of Science ®Google Scholar
• Harper PS. Huntington's disease. WB Saunders, London (1996).
   Google Scholar
• Giunti P, Sweeney MG, Spadaro M eta]. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 117 (Pt 4), 645–649 (1994).
   Google Scholar
• Ranum LPW, Chung M-Y, Banfi S etal Molecular and clinical correlations in spinocerebellar ataxia Type 1: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55,244-252 (1994).
   Google Scholar
• Goldfarb LG, Chumakov MP Petrov PA, Fedorova NI, Gajdusek DC. Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. Neurology39,1527–1530 (1989).
   PubMedGoogle Scholar
• Nino HE, Noreen HJ, Dubey DP etal A family with hereditary ataxia: 1-ILA typing. Neurology30, 12–20 (1980).
   PubMed Web of Science ®Google Scholar
• Genis D, Matilla T, Volpini V etal Clinical, neuropathologic and genetic studies of a large spinocerebellar ataxia Type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45, 24–30 (1995).
   PubMed Web of Science ®Google Scholar
• Subramony SH, Vig PJS. Genetic instabilities and hereditary neurological diseases. Wells RD, Warren ST (Eds), Academic Press, San Diego, CA, USA, 231–240 (1998).
   Google Scholar
• Robitaille Y, Schut L, Kish SJ. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia Type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol 90,572–581 (1995).
   Google Scholar
• Yakura H, Wakisaka A, Fujimoto S, Itakura K. Letter: hereditary ataxia and HL-A. N. Engl Med 291,154–155 (1974).
   PubMedGoogle Scholar
• Rich SS, Wilkie P, Schut L, Vance G, Orr HT Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am. Hum. Genet. 41,524-531 (1987).
   Google Scholar
• Orr HT, Chung MY, Banfi S et al Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia Type 1. Nature Genet. 4,221–226 (1993).
   PubMed Web of Science ®Google Scholar
• ••The first report describing the geneticetiology of a dominant spinocerebellar ataxia (SCA).
   Google Scholar
• Quan F, Janas J, Popovich BW. A novel CAG repeat configuration in the SCAI gene: implications for the molecular diagnostics of spinocerebellar ataxia Type 1. Hum. Mal Genet. 4,2411-2413 (1995).
   Google Scholar
• Futamura N, Matsumura R, Murata K, Suzumura A, Takayanagi T An apparently sporadic case with spinocerebellar ataxia Type 1 (SCA1). Rinsho Shinkeigaku 37, 708–710 (1997).
   PubMedGoogle Scholar
• Goldfarb LG, Vasconcelos 0, Platonov FAetal Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia Type 1. Ann. Neuml 39,500–506 (1996).
   Google Scholar
• Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia Type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am. J. Hum. Genet. 60, 842–850 (1997).
   Google Scholar
• Cancel G, Dun A, Didierjean 0 etal Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Mal Genet. 6,709-715 (1997).
   Google Scholar
• Zhou YX, Wang GX, Tang BS etal Spinocerebellar ataxia Type 2 in China: molecular analysis and genotype-phenotype correlation in nine families. Neumlogy51,595–598 (1998).
   PubMedGoogle Scholar
• Orozco G, Estrada R, Perry TL et al Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological and biochemical findings. J. Neural. Li. 93,37–50 (1989).
   Google Scholar
• Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 97,306–310 (1999).
   Google Scholar
• Gispert S, Twells R, Orozco G etal Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Natum Genet. 4,295-299 (1993).
   Google Scholar
• PluSt SM, Nechiporuk A, Starkman S. Anticipation in spinocerebellar ataxia Type 2. Nature Genet. 5,8-10 (1993).
   Google Scholar
• PluSt S-M, Nechiporuk A, Nechiporuk Tetal Moderate expansion of a normal biallelic trinucleotide repeat in spinocerebellar ataxia Type 2. Nature Genet. 14,209–276 (1996).
   Google Scholar
• Sanpei K, Takano H, Igarashi S etal Identification of the spinocerebellar ataxia Type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Natum Genet. 14,227–284 (1996).
   Google Scholar
• Imbert G, Saudou F, Yvert G etal Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Natum Genet. 14,295–296 (1996).
   Google Scholar
• ••The three simultaneous reports of thediscovery of the cause of SCA2.
   Google Scholar
• Riess 0, Laccone FA, Gispert S etal SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1,59–64 (1997).
   PubMedGoogle Scholar
• Fernandez M, McClain ME, Martinez RA etal Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology 55, 569–572 (2000).
   PubMedGoogle Scholar
• Matsumura R, Futamura N. Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology57,566(2001).
   PubMedGoogle Scholar
• Hussey J, Lockhart PJ, Seltzer W eta]. Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. Genet. Test. 6, 217–220 (2002).
   Google Scholar
• Nakano KIK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology22, 49–55 (1972).
   PubMed Web of Science ®Google Scholar
• Rosenberg RN, Nyhan WL, Bay C. Autosomal dominant striatonigral degeneration: a clinical, pathological and biochemical study of a new genetic disorder. Trans. Am Neural. Assoc. 101, 78–80 (1976).
   Google Scholar
• Woods BT, Schaumburg I11 I. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. I Neural. Sci. 17,149-166 (1972).
   Google Scholar
• Romanul PC, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl. I Med. 296, 1505–1508 (1977).
   PubMedGoogle Scholar
• Coutinho P, Andrade C. Autosomal dominant degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology28, 703–709 (1978).
   PubMed Web of Science ®Google Scholar
• Sequeiros J, Coutinho P. Advances inNeurology, volume 61. Harding AE, Deufel T (Eds), Ravens Press, New York, USA, 139–153 (1993).
   Google Scholar
• Paulson HL. Analysis of Triplet Repeat Disorders: Rubinsztein DC, Hayden MR (Eds), Bios, Oxford, UK, 129–144 (1998).
   Google Scholar
• Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia Type 3 and Machado—Joseph disease. Ann. Neural. 38,68-72 (1995).
   Google Scholar
• Takiyama Y, Oyanagi S, Kawashima S eta]. A clinical and pathologic study of a large Japanese family with Machado—Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology44, 1302–1308 (1994).
   Google Scholar
• Higgins JJ, Nee LE, Vasconcelos 0 etal Mutations in American families with spinocerebellar ataxia (SCA) Type 3: SCA3 is allelic to Machado—Joseph disease. Neurology46, 208–213 (1996).
   PubMedGoogle Scholar
• Kawaguchi Y, Okamoto T, Taniwaki Metal CAG expansions in a novel gene for Machado—Joseph disease at chromosome 14q32.1. Natum Genet. 8,221-228 (1994).
   Google Scholar
• •Discovery of the genetic etiology of SCA3.
   Google Scholar
• Cancel G, Abbas N, Stevanin G etal Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado—Joseph disease locus. Am.j Hum. Genet. 57,809-816 (1995).
   Google Scholar
• Schols L, Vieira-Saecker AM, Schols S etal Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum. Mal Genet. 4, 1001–1005 (1995).
   Google Scholar
• van Alfen N, Sinke RJ, Zwarts MJ etal Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann. Neural. 49, 805–807 (2001).
   Google Scholar
• Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 117 (Pt 3), 445–460 (1994).
   Google Scholar
• Johansson J, Forsgren L, Sandgren 0 etal Expanded CAG repeats in Swedish spinocerebellar ataxia Type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum. Mal. Genet. 7, 171–176 (1998).
   Google Scholar
• David G, Durr A, Stevanin G etal Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mal Genet. 7,165-170(1998).
   Google Scholar
• Benton CS, de Silva R, Rutledge SL eta]. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology51, 1081–1086 (1998).
   Google Scholar
• Martin JJ, Van Regemorter N, Krols Letal On an autosomal dominant form of retinal—cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol 88,277–286(1994).
   PubMedGoogle Scholar
• David G, Abbas N, Stevanin G etal Cloning of the SCA 7gene reveals a highly unstable CAG repeat expansion. Nature Genet. 17,65–70 (1997).
   PubMed Web of Science ®Google Scholar
• •Discovery of the genetic etiology of SCA7.
   Google Scholar
• Del-Favero J, Krols L, Michalik A eta]. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA Type II) caused by CAG triplet repeat expansion. Hum. Mal Genet. 7,177–186 (1998).
   Google Scholar
• Koob MD, Benzow IKA, Bird TD etal Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet. 18,72–75 (1998).
   PubMedGoogle Scholar
• •Second report of etiology of SCA7 using a novel method for mutation discovery since applied to other CAG repeat expansion disorders.
   Google Scholar
• Nardacchione A, Orsi L, Brusco A etal Definition of the smallest pathological CAG expansion in SCA7. Clin. Genet. 56, 232–234 (1999).
   Google Scholar
• Stevanin G, Giunti P, Belal GD etalDe nova expansion of intermediate alleles in spinocerebellar ataxia 7. Hum. Mal Genet.7,1809-1813 (1998).
   Google Scholar
• Koide R, Kobayashi S, Shimohata T etal A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Mal Genet. 8,2047–2053 (1999).
   PubMed Web of Science ®Google Scholar
• •Initial report of the genetic etiology of what would become classified as SCA17.
   Google Scholar
• Nakamura K, Jeong SY, Uchihara T etal SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mal Genet. 10,1441-1448 (2001).
   Google Scholar
• Zuhlke C, Hellenbroich Y, Dalski A etal Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eta: J. Hum. Genet. 9,160-164 (2001).
   Google Scholar
• Fujigasaki H, Martin JJ, De Deyn PP etal CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124, 1939–1947 (2001).
   PubMedGoogle Scholar
• ••Confirmation of discovery of geneticetiology of SCA17.
   Google Scholar
• Silveira I, Miranda C, Guimaraes L etal Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Atli. Neural 59, 623–629 (2002).
   Google Scholar
• Zuhlke C, Gehlken U, Hellenbroich Y, Schwinger E, Burk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?1 Neural. 250,161-163 (2003).
   Google Scholar
• Ikeuchi T, Koide R, Tanaka H etal Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann. Neural. 37,769–775 (1995).
   PubMedGoogle Scholar
• Ross CA, Margolis RL, Rosenblatt A etal Huntington's disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). Medicine 76,305–338 (1997).
   PubMedGoogle Scholar
• Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology32,798–807 (1982).
   PubMed Web of Science ®Google Scholar
• Goto I, Tobimatsu S, Ohta M eta]. Dentatorubral-pallidoluysian degeneration: clinical, neuro-opthalmologic, biochemical and pathologic studies on autosomal dominant form. Neurology32,1395–1399 (1982).
   PubMedGoogle Scholar
• Iizuka R, Hirayama K, Maehara K. Dentato-rubro-pallido-luysian atrophy: a clinco-pathological study. I Neural Neurosurg. Psych. 47,1288-1298 (1984).
   Google Scholar
• Becher MW Rubinsztein DC, Leggo J eta Dentatorubral and pallidoluysian atrophy (DRPLA): clinical and neuropathological findings in genetically confirmed North American and European pedigrees. May Disoml 12,519–530 (1997).
   PubMedGoogle Scholar
• •Most complete summary of non-Japanese cases of dentatorubral and pallidoluysian atrophy (DRPLA).
   Google Scholar
• Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat containing genes in human brain: cloning, expression and length polymorphisms. Genomics 16,572–579 (1993).
   PubMed Web of Science ®Google Scholar
• Koide R, Ikeuchi T, Onorodera 0 et al. Unstable expansion of CAG repeat in herediatry dentatorubral pallidoluysian atrophy (DRPLA). Natum Genet. 6,9-12 (1994).
   Google Scholar
• Nagafuchi S, Yanagisawa H, Soto K eta]. Dentatorubral and pallidoluysian atrophy is caused by an expansion of an unstable CAG trinucleotide repeat on chromosome 12p. Natum Genet. 6,14-18 (1994).
   Google Scholar
• ••Candidate gene strategy used simultaneously by two groups to identify the cause of DRPLA.
   Google Scholar
• Kurohara K, Kuroda Y, Maruyama H eta]. Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA)gene results in spastic paraplegia. Neurology48, 1087–1090 (1997).
   Google Scholar
• Bates G. Huntingtin aggregation and toxicity in Huntington's disease. Lancet361,1642–1644 (2003).
   PubMed Web of Science ®Google Scholar
• Rudnicki DD, Margolis RL. Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Exp. Rev Mal Med. (2003) (In Press).
   Google Scholar
• Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington's disease. Bends Genet. 19, 233–238 (2003).
   PubMed Web of Science ®Google Scholar
• Paulson H. Polyglutamine neurodegeneration: minding your P's and Qs. Nattily Med. 9,825–826 (2003).
   PubMed Web of Science ®Google Scholar
• Chan HY, Bonini NM. Drosophila models of polyglutamine diseases. Meth. Mal Biol. 217,241–251 (2003).
   PubMedGoogle Scholar
• Ross CA. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 35,819–822 (2002).
   PubMedGoogle Scholar
• Tsuji S. Molecular mechanisms of neurodegeneration in dentatorubral-pallidoluysian atrophy (DRPLA). Rinsho Shinkeigaku 41,1064–1066 (2001).
   PubMedGoogle Scholar
• Orr HT Beyond the Qs in the polyglutamine diseases. Genes Dev 15, 925–932 (2001).
   Google Scholar
• Aiyar J, Nguyen AN, Chandy KG, Grissmer S. The P-region and S6 of Kv3.1 contribute to the formation of the ion conduction pathway. Biophys.1. 67, 2261–2264 (1994).
   Google Scholar
• Trottier Y, Lutz Y, Stevanin G etal Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403–406 (1995).
   PubMed Web of Science ®Google Scholar
• Zuccato C, Ciammola A, Rigamonti D etal Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293,493–498 (2001).
   PubMed Web of Science ®Google Scholar
• •Evidence for toxicity from loss of function in a polyglutamine disease.
   Google Scholar
• Chen S, Berthelier V, Hamilton JB, O'Nuallain B, Wetzel R. Amyloid-like features of polyglutamine aggregates and their assembly kinetics. Biochemistry 41, 7391–7399 (2002).
   Google Scholar
• Poirier MA, Li H, Macosko J etal Huntingtin spheroids and protofibrils as precursors in polyglutamine fibrilization. .1. Biol. Chem. 277,41032-41037 (2002).
   Google Scholar
• Yamamoto A, Lucas JJ, Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Ce11101, 57–66 (2000).
   Google Scholar
• ••Remarkable finding that neuropathologyand motor dysfunction in a transgenic mouse model of Huntington's disease (HD) is reversed when production of the mutant protein is shut down.
   Google Scholar
• Klement IA, Skinner PJ, Kaytor MD etal Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. C1195, 41–53 (1998).
   Google Scholar
• Saudou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Ce1195,55–66 (1998).
   Google Scholar
• •Provocative and controversial finding that inclusions may not be directly toxic.
   Google Scholar
• Kazantsev A, Walker HA, Slepko N et al A bivalent huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nature Genet. 30,367–376 (2002).
   PubMedGoogle Scholar
• Nucifora FC Jr, Sasaki M, Peters ME etal Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 291,2423–2428 (2001).
   PubMedGoogle Scholar
• •Evidence that proteins with polyglutamine expansions may interfere with transcriptional processes.
   Google Scholar
• Bence NF, Sampat RM, Kopito RR. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 292, 1552–1555 (2001).
   Google Scholar
• •Initial evidence for the involvement of proteasomes in polyglutamine disease pathogenesis.
   Google Scholar
• Matilla A, Gorbea C, Einum DD eta]. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum. Mal Genet. 10,2821-2831 (2001).
   Google Scholar
• Waelter S, Boeddrich A, Lurz R etal Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Ma Biol. Ce1112, 1393–1407 (2001).
   Google Scholar
• Cummings CJ, Sun Y, Opal P etal Overexpression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum. Mal Genet. 10,1511-1518 (2001). too Wyttenbach A, Sauvageot 0, Carmichael J eta]. Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum. Mal Genet. 11,1137-1151 (2002).
   Google Scholar
• Warrick JM, Chan HY, Gray-Board GL etal Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70. Nature Genet. 23,425–428 (1999).
   PubMed Web of Science ®Google Scholar
• •Early evidence supporting a modulating role of the heat shock proteins in polyglutamine pathogenesis.
   Google Scholar
• Wellington CL, Ellerby LM, Gutekunst CA eta]. Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. I Neurosci. 22, 7862–7872 (2002).
   Google Scholar
• •Evidence for the role of proteolysis in the pathogenesis of polyglutamine diseases.
   Google Scholar
• Steffan JS, Bodai L, Pallos J et al Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413,739–743 (2001).
   PubMed Web of Science ®Google Scholar
• Yamada M, Tsuji S, Takahashi H. Involvement of lysosomes in the pathogenesis of CAG repeat diseases. Ann. Neural. 52,498–503 (2002).
   Google Scholar
• •Implication of lysosomal pathway in polyglutamine pathogenesis.
   Google Scholar
• Sawa A, Wiegand GW, Cooper J eta]. Increased apoptosis of Huntington's disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Nature Merl 5,1194–1198 (1999).
   Google Scholar
• •Mitochondrial dysfunction in polyglutamine pathogenesis.
   Google Scholar
• Kalchman MA, Koide FIB, McCutcheon K et al HIP1, a human homolog of S cerevisiae Sla2P, interacts with membrane-associated huntingtin in the brain. Nature Genet. 16(1), 44–53 (1997).
   Google Scholar
• Burke JR, Enghild JJ, Martin ME et al Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Merl 347,350 (1996).
   Google Scholar
• Matilla A, Koshy B, Cummings CJ eta]. The cerebellar leucine rich acidic nuclear protein (LANP) interacts with ataxin-1. Nature 389,974–978 (1997).
   Google Scholar
• Chen HK, Fernandez-Funez P, Acevedo SF et al Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia Type 1. Ce11113, 457–468 (2003). Ho La Spada AR, Fu YH, Sopher BL eta]. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 31,913-927 (2001). ill Hand PJ, Gardner RJ, Knight MA, Forrest SM, Storey E. Clinical features of a large Australian pedigree with episodic ataxia Type 1. May. Disoirl 16,938–939 (2001).
   Google Scholar
• Zuberi SM, Eunson LH, Spauschus A eta]. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia Type 1 and sometimes with partial epilepsy. Brain 122 (Pt 5), 817–825 (1999).
   Google Scholar
• Browne DL, Gancher ST, Nutt JG eta]. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 Nature Genet. 8,136-140 (1994).
   Google Scholar
• •Discovery of the genetic cause of episodic ataxia Type 1.
   Google Scholar
• Eunson LH, Rea R, Zuberi SM etal Clinical, genetic and expression studies of mutations in the potassium channel gene KCNA 1 reveal new phenotypic variability. Ann. Neural. 48,647-656 (2000).
   Google Scholar
• Maylie B, Bissonnette E, Virk M, Adelman JP, Maylie JG. Episodic ataxia Type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. J: Neurosci. 22, 4786–4793 (2002).
   Google Scholar
• Ishikawa K, Tanaka H, Saito M eta]. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia Type 6 gene in chromosome 19p13.1.Arnj Hum. Genet. 61,336-346 (1997).
   Google Scholar
• Matsuyama Z, Kawakami H, Maruyama H etal Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum. Mal Genet. 6,1283-1287 (1997).
   Google Scholar
• Jodice C, Mantuano E, Veneziano L eta]. Episodic ataxia Type 2 (EA2) and spinocerebellar ataxia Type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Mal. Genet. 6,1973-1978 (1997).
   Google Scholar
• •Demonstration that episodic ataxia Type 2 and SCA6 are overlapping syndromes.
   Google Scholar
• Sinke RJ, Ippel EF, Diepstraten CM eta]. Clinical and molecular correlations in spinocerebellar ataxia Type 6: a study of 24 Dutch families. Arch. Neural. 58, 1839–1844 (2001).
   Google Scholar
• Schols L, Kruger R, Amoiridis G eta]. Spinocerebellar ataxia Type 6: genotype and phenotype in German kindreds. j Neural. Neurosurg. PTchiatry64, 67-73(1998).
   Google Scholar
• Zhuchenko 0, Bailey J, Bonnen P et al Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alphalA-voltage-dependent calcium channel. Nature Genet. 15,62–69 (1997).
   PubMed Web of Science ®Google Scholar
• ••Discovery of the genetic etiology of SCA6.
   Google Scholar
• Ikeuchi T, Takano H, Koide R etal Spinocerebellar ataxia Type 6: CAG repeat expansion in alphalA voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann. Neural 42, 879–884 (1997).
   Google Scholar
• Gomez CM, Thompson RM, Gammack JT et al Spinocerebellar ataxia Type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration and variable age of onset. Ann. Neural. 42, 933–950 (1997).
   Google Scholar
• Takahashi H, Ikeuchi T, Honma Y, Hayashi S, Tsuji S. Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family. Acta Neuropathol 95,333-337(1998).
   Google Scholar
• Ishikawa K, Watanabe M, Yoshizawa K etal Clinical, neuropathological and molecular study in two families with spinocerebellar ataxia Type 6 (SCA6). J Neural Neumsurg. fiychiatry67, 86–89 (1999).
   Google Scholar
• Yabe I, Sasaki H, Matsuura T eta]. SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neuml Sci. 156,89-95 (1998).
   Google Scholar
• Ishikawa K, Owada K, Ishida K etal Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells. Neurology56, 1753–1756 (2001).
   PubMed Web of Science ®Google Scholar
• •Protein aggregation in an ataxia not due to a very long polyglutamine expansion.
   Google Scholar
• Piedras-Renteria ES, Watase K, Harata N etal Increased expression of alphalA Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia Type 6.j Neurosci 21,9185–9193 (2001).
   PubMedGoogle Scholar
• Restituito S, Thompson RM, Eliet J etal The polyglutamine expansion in spinocerebellar ataxia Type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. I Neurosci. 20,6394–6403 (2000).
   Google Scholar
• Matsuyama Z, Wakamori M, Mori Y etal Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.Neurosci. 19, RC14 (1999).
   Google Scholar
• Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. May. Disoirl 1,239–253 (1986).
   PubMedGoogle Scholar
• Baloh RVV, Winder A. Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. Neurology41, 429–433 (1991).
   PubMedGoogle Scholar
• Bain PG, O'Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann. Neural. 31,147–154 (1992).
   PubMedGoogle Scholar
• Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMGRG. Cephalalgia16, 153–155 (1996).
   Google Scholar
• Ophoff RA, Terwindt GM, Vergouwe MN etal Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Ce1187, 543–552 (1996). ?Discovery of the genetic etiology of familial hemiplegic migraine and episodic ataxia Type 2.
   Google Scholar
• Geschwind DH, Perlman S, Figueroa IKP etal Spinocerebellar ataxia Type 6. Frequency of the mutation and genotype—phenotype correlations. Neurology49, 1247–1251 (1997).
   Google Scholar
• Yue Q, Jen JC, Nelson SF, Baloh RVV. Progressive ataxia due to a missense mutation in a calcium channel gene. 4117. Hum. Genet. 61, 1078–1087 (1997).
   Google Scholar
• Day RV, Schut LJ, Moseley ML, Durand AC, Ranum LP Spinocerebellar ataxia Type 8: clinical features in a large family. Neurology55, 649–657 (2000).
   PubMedGoogle Scholar
• Juvonen V, Hietala M, Paivarinta M eta]. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann. Neural. 48, 354–361 (2000).
   Google Scholar
• Koob MD, Moseley ML, Schut LJ etal An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nature Genet. 21, 379–384 (1999).
   PubMed Web of Science ®Google Scholar
• ••The discovery of the cause of SCA8.
   Google Scholar
• Vincent JB, Neves-Pereira ML, Paterson AD etal An unstable trinucleotide repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am. J. Hum. Genet. 66, 819–829 (2000).
   Google Scholar
• Worth PF, Houlden H, Giunti P, Davis MB, Wood NW Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nature Genet. 24, 214–215 (2000).
   PubMed Web of Science ®Google Scholar
• Stevanin G, Herman A, Durr A etal Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nature Genet. 24, 213 (2000).
   Google Scholar
• Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH. SCA8 repeat expansions in ataxia: a controversial association. Neurology57, 1310–1312 (2001).
   Google Scholar
• •Discussion of the controversy concerning SCA8.
   Google Scholar
• Cellini E, Nacmias B, Forleo P etal Genetic and clinical analysis of spinocerebellar ataxia Type 8 repeat expansion in Italy. Arch. Neural. 58, 1856–1859 (2001).
   Google Scholar
• Ikeda Y, Shizuka-Ikeda M, Watanabe M etal Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. I Neural. Sci. 182, 76–79 (2000).
   Google Scholar
• Nemes JP, Benzow IKA, Moseley ML, Ranum LP, Koob MD. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum. Mal Genet. 9, 1543–1551 (2000).
   Google Scholar
• Benzow KA, Koob MD. The KLHL1-antisense transcript (KLHL1AS) is evolutionarily conserved. Mamm. Genome 13, 134–141 (2002).
   Google Scholar
• Matsuura T, Yamagata T, Burgess DL et al Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia Type 10. Nature Genet. 26, 191–194 (2000).
   PubMed Web of Science ®Google Scholar
• ••Discovery of the genetic etiology ofSCA10, the first pentameric repeat expansion.
   Google Scholar
• Rasmussen A, Matsuura T, Ruano L eta]. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia Type 10. Ann. Neural 50, 234–239 (2001).
   Google Scholar
• O'Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL. SCA-12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology56, 299–303 (2001).
   PubMed Web of Science ®Google Scholar
• Fujigasaki H, Verma IC, Camuzat A etal SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neural. 49, 117–121 (2001).
   Google Scholar
• Srivastava AK, Choudhry S, Gopinath MS etal Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann. Neural. 50, 796–800 (2001).
   Google Scholar
• Margolis RL, O'Hearn E, Rosenblatt A etal A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann. Neural. 50, 373–380 (2001).
   Web of Science ®Google Scholar
• Holmes SE, O'Hearn E, Rosenblatt A eta]. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington 's disease-like 2. Nature Genet. 29(4), 377–378 (2001).
   Google Scholar
• •The genetic etiology of a repeat expansion disease similar to HD.
   Google Scholar
• Holmes SE, O'Hearn E, Ross CA, Margolis RL. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res. Bull. 56, 397–403 (2001).
   Google Scholar
• •Summary of the discovery of the genetic etiology of SCA12 and subsequent investigations.
   Google Scholar
• Yamashita I, Sasaki H, Yabe I eta]. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D195206 and D195605 on chromosome 19q13.4-qter. Ann. Neural. 48, 156–163 (2000).
   Google Scholar
• Chen DH, Brkanac Z, Verlinde CL et al Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am.j Hum. Genet. 72, 839–849 (2003).
   PubMedGoogle Scholar
• ••Discovery of the genetic etiology ofSCA14, a point mutation implicating protein phosphorylation in the pathogenesis of cerebellar degeneration.
   Google Scholar
• Van Swieten JC, Brusse E, De Graaf BM et al A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am. J. Hum. Genet. 72, 191–199 (2003).
   Google Scholar
• ••The discovery of the genetic etiologyof fibroblast growth factor 14- associated SCA.
   Google Scholar
• Pandolfo M, Koenig M. Genetic Instabilities and Heraiitary Neurological Diseases. Wells RD, Warren ST (Eds), Academic Press, San Diego, CA, USA, 373–400 (1998).
   Google Scholar
• Berry-Kravis E, Lewin F, Wuu J eta]. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann. Neural 53, 616–623 (2003).
   Google Scholar
• •Confirmation that the fragile X premutation can result in an SCA-like phenotype.
   Google Scholar
• Leehey MA, Munhoz RP, Lang AE eta]. The fragile X premutation presenting as essential tremor. Arch. Neural 60, 117–121 (2003).
   Google Scholar
• •Initial description of fragile X permutation-associated ataxia.
   Google Scholar
• Schots L, Szymanski S, Peters S etal Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum. Genet. 107, 132–137 (2000).
   PubMedGoogle Scholar
• •Seemingly sporadic cases of SCA may have an identifiable genetic cause.
   Google Scholar
• Abele M, Burk K, Schols L etal The aetiology of sporadic adult-onset ataxia. Brain 125, 961–968 (2002).
   PubMed Web of Science ®Google Scholar
• Soong BW, Lu YC, Choo KB, Lee HY. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia Type 6. Arch. Neural 58, 1105–1109 (2001).
   Google Scholar
• Gellera C, Meoni C, Castellotti B etal Errors in Huntington 's disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Am. J. Hum. Genet. 59, 475–477 (1996).
   Google Scholar
• Margolis RL, Stine OC, Callahan C etal Two novel single-base-pair substitutions adjacent to the CAG repeat in the Huntington's disease gene al* implications for diagnostic testing. Am J: Hum. Genet. 64, 323–326 (1999).
   Google Scholar
• Yu S, Fimmel A, Fung D, Trent RJ. Polymorphisms in the CAG repeat: a source of error in Huntington's disease DNA testing. Clin. Genet. 58, 469–472 (2000).
   PubMedGoogle Scholar
• Cannella M, Simonelli M, D'Alessio C et al Presymptomatic tests in Huntington's disease and dominant ataxias. Neural. Sc]. 22, 55–56 (2001).
   PubMedGoogle Scholar
• Burson CM, Markey KR. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. Semin. Pediatr Neural. 8, 177–186 (2001).
   PubMedGoogle Scholar
• •Review of issues in predictive (presymptomatic) genetic testing.
   Google Scholar
• Benjamin CM, Adam S, Wiggins S eta]. Proceed with care: direct predictive testing for Huntington's disease. Am. J: Hum. Genet. 55, 606–617 (1994).
   Google Scholar
• Sequeiros J, Maciel P, Taborda F et al Prenatal diagnosis of Machado—Joseph disease by direct mutation analysis. Prenat. Diagn. 18, 611–617 (1998).
   PubMedGoogle Scholar
• Lashwood A, Hinter E Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK. Hum. Perth. 4, 235–238 (2001).
   Google Scholar
• •Discussion of issues of preimplantation testing in HD that is pertinent to the SCAs.
   Google Scholar
• The Huntington's Disease Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology57, 397–404 (2001).
   Google Scholar
• •The largest and most sophisticated clinical treatment trial of any dominant movement disorder.
   Google Scholar
• Hauser RA, Furtado S, Cimino CR eta]. Bilateral human fetal striatal transplantation in Huntington's disease. Neurology58, 687–695 (2002).
   Google Scholar
• •Promising concept of fetal tissue transplantation in neurodegenerative diseases; results were not very encouraging.
   Google Scholar
• Ranen NG, Peyser CE, Coyle J etal A controlled trial of idebenone in Huntington's disease. May Disold.11, 549–554 (1996).
   PubMed Web of Science ®Google Scholar
• Perlman SL. Cerebellar Ataxia. CUI7: Treat. Options Neural 2,215–224 (2000).
   PubMedGoogle Scholar
• •Systematic review of treatment of the SCAs.
   Google Scholar
• Yabe I, Sasaki H, Yamashita I, Takei A, Tashiro K. Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry. Acta Neural. Scand. 104, 44–47 (2001).
   Google Scholar
• Mori M, Adachi Y, Mori N etal Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. J. Neural. Sc]. 195, 149–152 (2002).
   PubMed Web of Science ®Google Scholar
• Shiga Y, Tsuda T, Itoyama Y etal Transcranial magnetic stimulation alleviates truncal ataxia in spinocerebellar degeneration. J: Neural. Neurosurg: PTchiatry72, 124–126 (2002).
   PubMed Web of Science ®Google Scholar
• •Intriguing nonpharrnacological approach to cerebellar ataxia.
   Google Scholar
• Dorschner MO, Barden D, Stephens K. Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J: Mal Diagn. 4, 108–113 (2002).
   PubMedGoogle Scholar
• •Example of methodological improvements possible in SCA diagnosis.
   Google Scholar
• Margolis RL. The spinocerebellar ataxias: order emerges from chaos. CUI7: Neural. Neurosd Rep. 2, 447–456 (2002).
   Google Scholar
• Filla A, Mariotti C, Caruso G etal Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur. Neural. 44, 31–36 (2000).
   Google Scholar
• Schots L, Amoiridis G, Buttner T eta]. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann. Neural. 42, 924–932 (1997).
   Google Scholar
• Storey E, du SD, Shaw JH etal Frequency of spinocerebellar ataxia types 1, 2, 3, 6 and 7 in Australian patients with spinocerebellar ataxia. Am. J: Med. Genet. 95, 351–357 (2000).
   Google Scholar
• Pujana MA, Corral J, Gratacos M etal Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum. Genet. 104, 516–522 (1999).
   PubMedGoogle Scholar
• Moseley ML, Benzow KA, Schut LJ etal Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology51, 1666–1671 (1998).
   PubMedGoogle Scholar
• Takano H, Cancel G, Ikeuchi T eta]. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am.j Hum. Genet. 63, 1060–1066 (1998).
   Google Scholar
• Tang B, Liu C, Shen L eta]. Frequency of SCA1, SCA2, SCANMJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch. Neural. 57, 540–544 (2000).
   Google Scholar
• Kim JY, Park SS, Joo SI, Kim JM, Jeon BS. Molecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6 and SCA7. Mal. c1112, 336–341 (2001).
   Google Scholar
• Matsumura R, Futamura N, Ando N, Ueno S. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neural. Land. 107, 38–41 (2003).
   PubMedGoogle Scholar
• Flanigan K, Gardner K, Alderson K etal Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am.j Hum. Genet. 59, 392–399 (1996).
   Google Scholar
• Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia Type III in Japan. J: Hum. Genet. 46, 167–171 (2001).
   Google Scholar
• Nagaoka U, Takashima M, Ishikawa K etal A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology54, 1971–1975 (2000).
   PubMedGoogle Scholar
• Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia Type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet. 8, 280–284 (1994).
   Google Scholar
• Stevanin G, Herman A, Brice A, Durr A. Clinical and MRI findings in spinocerebellar ataxia Type 5. Neurology53, 1355–1357 (1999).
   PubMedGoogle Scholar
• Worth PF, Giunti P, Gardner-Thorpe C etal Autosomal dominant cerebellar ataxia Type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am.j Hum. Genet. 65, 420–426 (1999).
   Google Scholar
• Herman-Bert A, Stevanin G, Netter JC etal Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am. J: Hum. Genet. 67, 229–235 (2000).
   Google Scholar
• Storey E, Gardner RJ, Knight MA etal A new autosomal dominant pure cerebellar ataxia. Neurology57, 1913–1915 (2001).
   PubMedGoogle Scholar
• Knight MA, Kennerson M, Nicholson GA etal A new spinocerebellar ataxia SCA 15. AIR Hum. Genet. S69, 509 (2001).
   Google Scholar
• Miyoshi Y, Yamada T, Tanimura M etal A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 57, 96–100 (2001).
   Google Scholar
• Brkanac Z, Fernandez M, Matsushita M eta]. Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am.j Merl Genet. 114,450-457 (2002).
   Google Scholar
• Schelhaas HJ, Ippel PF, Hageman G eta]. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. j Neural. 248, 113–120 (2001).
   Google Scholar
• Devos D, Schraen-Maschke S, Vuillaume I etal Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology56, 234–238 (2001).
   PubMedGoogle Scholar