Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Whaley, Nathaniel Robb ^a,b   Fujioka, Shinsuke ^b   Wszolek, Zbigniew K ^b  

^a Tri State Mountain Neurology   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 3; BOTULINUM TOXIN; NUCLEIC ACID BINDING PROTEIN; SCA 10 PROTEIN; SCA 12 PROTEIN; SCA 13 PROTEIN; SCA 14 PROTEIN; SCA 15 PROTEIN; SCA 16 PROTEIN; SCA 17 PROTEIN; SCA 18 PROTEIN; SCA 19 PROTEIN; SCA 21 PROTEIN; SCA 22 PROTEIN; SCA 25 PROTEIN; SCA 27 PROTEIN; SCA 28 PROTEIN; SCA 8 PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA TYPE 1; AUTOSOMAL DOMINANT DISORDER; BLEPHAROSPASM; CAG REPEAT; CERVICAL DYSTONIA; CLINICAL FEATURE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIPLOPIA; DYSARTHRIA; EXTRAPYRAMIDAL SYMPTOM; FASCICULATION; GAIT DISORDER; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; INSOMNIA; MOTOR DYSFUNCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; OPHTHALMOPLEGIA; OPTIC NERVE DISEASE; OROMANDIBULAR DYSTONIA; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PHYSIOTHERAPY; PREVALENCE; PROGNOSIS; QUALITY OF LIFE; REVIEW; SEIZURE; SPASTICITY; SPEECH THERAPY; SPINOCEREBELLAR ATAXIA TYPE 10; SPINOCEREBELLAR ATAXIA TYPE 12; SPINOCEREBELLAR ATAXIA TYPE 13; SPINOCEREBELLAR ATAXIA TYPE 14; SPINOCEREBELLAR ATAXIA TYPE 15; SPINOCEREBELLAR ATAXIA TYPE 16; SPINOCEREBELLAR ATAXIA TYPE 17; SPINOCEREBELLAR ATAXIA TYPE 18; SPINOCEREBELLAR ATAXIA TYPE 19; SPINOCEREBELLAR ATAXIA TYPE 2; SPINOCEREBELLAR ATAXIA TYPE 20; SPINOCEREBELLAR ATAXIA TYPE 21; SPINOCEREBELLAR ATAXIA TYPE 22; SPINOCEREBELLAR ATAXIA TYPE 23; SPINOCEREBELLAR ATAXIA TYPE 25; SPINOCEREBELLAR ATAXIA TYPE 28; SPINOCEREBELLAR ATAXIA TYPE 3; SPINOCEREBELLAR ATAXIA TYPE 4; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT; URINARY URGENCY; WHEELCHAIR; GENETICS; PATHOLOGY;

GENOTYPE; HUMANS; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS;

EID: 79957509326     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-33     Document Type: Review

References (132)

1. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. AE Harding, Brain 1982 105 Pt 1 1 28 7066668 (Pubitemid 12001376)
2. Inherited ataxias. N Whaley R Uitti, Neurology and Clinical Neuroscience Philadelphia: Mosby Inc, Schapira A, 2007 887 897
3. Molecular pathogenesis of spinocerebellar ataxias. AM Duenas R Goold P Giunti, Brain 2006 129 Pt 6 1357 1370 16613893 (Pubitemid 43999370)
4. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. BP van de Warrenburg RJ Sinke CC Verschuuren-Bemelmans H Scheffer ER Brunt PF Ippel JA Maat-Kievit D Dooijes NC Notermans D Lindhout NV Knoers HP Kremer, Neurology 2002 58 5 702 708 11889231 (Pubitemid 34211547)
5. Molecular epidemiology of spinocerebellar ataxia type 6. K Craig SM Keers K Archibald A Curtis PF Chinnery, Annals of Neurology 2004 55 5 752 755 10.1002/ana.20110 15122720 (Pubitemid 38544340)
6. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. H Maruyama Y Izumi H Morino M Oda H Toji S Nakamura H Kawakami, American Journal of Medical Genetics 2002 114 5 578 583 10.1002/ajmg.10514 12116198 (Pubitemid 34680589)
7. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. ML Moseley KA Benzow LJ Schut TD Bird CM Gomez PE Barkhaus KA Blindauer M Labuda M Pandolfo MD Koob LP Ranum, Neurology 1998 51 6 1666 1671 9855520 (Pubitemid 28565250)
8. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. I Silveira C Miranda L Guimaraes MC Moreira I Alonso P Mendonca A Ferro J Pinto-Basto J Coelho F Ferreirinha J Poirier E Parreira J Vale C Januário C Barbot A Tuna J Barros R Koide S Tsuji SE Holmes RL Marqoils L Jardim M Pandolfo P Coutinho, Archives of Neurology 2002 59 4 623 629 10.1001/archneur.59.4.623 11939898 (Pubitemid 34289967)
9. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? L Schols G Amoiridis T Buttner H Przuntek JT Epplen O Riess, Annals of Neurology 1997 42 6 924 932 10.1002/ana.410420615 9403486 (Pubitemid 28008424)
10. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. A Brusco C Gellera C Cagnoli A Saluto A Castucci C Michielotto V Fetoni C Mariotti N Migone S Di Donato F Taroni, Archives of Neurology 2004 61 5 727 733 10.1001/archneur.61.5.727 15148151 (Pubitemid 38637691)
11. The hereditary adult-onset ataxias in South Africa. A Bryer A Krause P Bill V Davids D Bryant J Butler J Heckmann R Ramesar J Greenberg, Journal of the Neurological Sciences 2003 216 1 47 54 10.1016/S0022-510X(03)00209-0 14607302 (Pubitemid 37371865)
12. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. B Tang C Liu L Shen H Dai Q Pan L Jing S Ouyang J Xia, Archives of neurology 2000 57 4 540 544 10.1001/archneur.57.4.540 10768629 (Pubitemid 30212128)
13. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Q Saleem S Choudhry M Mukerji L Bashyam MV Padma A Chakravarthy MC Maheshwari S Jain SK Brahmachari, Human Genetics 2000 106 2 179 187 10.1007/s004390051026 10746559 (Pubitemid 30156422)
14. Spinocerebellar ataxias: an update. BW Soong HL Paulson, Current Opinion in Neurology 2007 20 4 438 446 10.1097/WCO.0b013e3281fbd3dd 17620880 (Pubitemid 47051992)
15. The pathogenesis of spinocerebellar ataxia. AH Koeppen, The Cerebellum (London, UK) 2005 4 1 62 73 10.1038/nmat1280 (Pubitemid 40021004)
16. Magnetic resonance imaging in spinocerebellar ataxias. S Dohlinger TK Hauser J Borkert AR Luft JB Schulz, The Cerebellum (London, UK) 2008 7 2 204 214
17. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). K Lasek R Lencer C Gaser J Hagenah U Walter A Wolters N Kock S Steinlechner M Nagel C Zuhlke, et al. Brain 2006 129 Pt 9 2341 2352 16760196 (Pubitemid 44522119)
18. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. L Schols P Bauer T Schmidt T Schulte O Riess, The Lancet Neurology 2004 3 5 291 304 10.1016/S1474-4422(04)00737-9 (Pubitemid 38510200)
19. Depressive and memory symptoms as presenting features of spinocerebellar ataxia. AM McMurtray DG Clark MK Flood S Perlman MF Mendez, The Journal of Neuropsychiatry and Clinical Neurosciences 2006 18 3 420 422 10.1176/appi.neuropsych.18.3.420 16963595
20. Clumsy gait and leg pain. N Whaley R Uitti, Movement Disorders: 100 Instructive Cases Taylor & Francis Group, Reich S. Boca Raton, 2008 239 244
21. Survival estimates for patients with Machado-Joseph disease (SCA3). C Kieling PR Prestes ML Saraiva-Pereira LB Jardim, Clinical Genetics 2007 72 6 543 545 10.1111/j.1399-0004.2007.00910.x 17894834 (Pubitemid 350131060)
22. The natural history of degenerative ataxia: a retrospective study in 466 patients. T Klockgether R Ludtke B Kramer M Abele K Burk L Schols O Riess F Laccone S Boesch I Lopes-Cendes A Brice R Inzelberq N Zilber J Dichqans, Brain 1998 121 Pt 4 589 600 9577387 (Pubitemid 28162122)
23. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. T Schmitz-Hubsch M Coudert P Bauer P Giunti C Globas L Baliko A Filla C Mariotti M Rakowicz P Charles P Ribai S Szymanski J Infante BP van de Warrenburg A Dürr D Timmann S Boesch R Fancellu R Rola C Depondt L Schöls E Zdienicka JS Kang S Döhlinger B Kremer DA Stephenson B Melegh M Pandolfo S di Donato ST du Montcel T Klockgether, Neurology 2008 71 13 982 989 10.1212/01.wnl.0000325057.33666.72 18685131
24. The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1). HT Orr, Neurobiology of Disease 2000 7 3 129 134 10.1006/nbdi.2000.0305 10860780 (Pubitemid 30451029)
25. Spinocerebellar ataxia type 1 - modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. HB Clark HT Orr, Journal of Neuropathology and Experimental Neurology 2000 59 4 265 270 10759181 (Pubitemid 30183693)
26. Dystonia as a presenting sign of spinocerebellar ataxia type 1. YR Wu GJ Lee-Chen AE Lang CM Chen HY Lin ST Chen, Movement Disorders 2004 19 5 586 587 10.1002/mds.10708 15133826
27. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. K Burk C Globas S Bosch T Klockgether C Zuhlke I Daum J Dichgans, Journal of Neurology 2003 250 2 207 211 10.1007/s00415-003-0976-5 12574952 (Pubitemid 36223096)
28. Clinical features and natural history of spinocerebellar ataxia type 1. H Sasaki T Fukazawa T Yanagihara T Hamada K Shima A Matsumoto K Hashimoto N Ito A Wakisaka K Tashiro, Acta Neurologica Scandinavica 1996 93 1 64 71 8825276 (Pubitemid 26033958)
29. Letter: Hereditary ataxia and HL-A. H Yakura A Wakisaka S Fujimoto K Itakura, The New UK Journal of Medicine 1974 291 3 154 155
30. Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. SS Rich P Wilkie L Schut G Vance HT Orr, American Journal of Human Genetics 1987 41 4 524 531 3477955 (Pubitemid 18031526)
31. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. TJ Kwiatkowski Jr S Banfi AE McCall C Jodice F Persichetti A Novelletto F LeBorgne-DeMarquoy LA Duvick M Frontali SH Subramony AL Beaudet L Terrenato HY Zoghbi LPW Ranum, American Journal of Human Genetics 1993 53 2 391 400 8101039 (Pubitemid 23308933)
32. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. HT Orr MY Chung S Banfi TJ Kwiatkowski Jr A Servadio AL Beaudet AE McCall LA Duvick LP Ranum HY Zoghbi, Nature Genetics 1993 4 3 221 226 10.1038/ng0793-221 8358429 (Pubitemid 23205168)
33. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. MY Chung LP Ranum LA Duvick A Servadio HY Zoghbi HT Orr, Nature Genetics 1993 5 3 254 258 10.1038/ng1193-254 8275090 (Pubitemid 23330388)
34. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. DH Geschwind S Perlman CP Figueroa LJ Treiman SM Pulst, American Journal of Human Genetics 1997 60 4 842 850 9106530 (Pubitemid 27146492)
35. SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. S Furtado M Farrer Y Tsuboi ML Klimek R de la Fuente-Fernandez J Hussey P Lockhart DB Calne O Suchowersky AJ Stoessl ZK Wszolek, Neurology 2002 59 10 1625 1627 12451209 (Pubitemid 35387073)
36. Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2. DK Simon K Zheng L Velazquez N Santos L Almaguer KP Figueroa SM Pulst, Archives of Neurology 2007 64 7 1042 1044 10.1001/archneur.64.7.1042 17620498 (Pubitemid 47048008)
37. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. SM Pulst N Santos D Wang H Yang D Huynh L Velazquez KP Figueroa, Brain 2005 128 Pt 10 2297 2303 16000334 (Pubitemid 41407970)
38. Spinocerebellar ataxia 2 (SCA2). I Lastres-Becker U Rüb G Auburger, The Cerebellum 2008 7 2 115 124 10.1007/s12311-008-0019-y 18418684
39. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. S Gispert R Twells G Orozco A Brice J Weber L Heredero K Scheufler B Riley R Allotey C Nothers R Hillermann A Lunkes C Khati G Stevanin A Hernandez C Magarĩo T Klockgether A Durr H Chneiweiss J Enczmann M Farrall J Beckmann M Mullan P Wernet Y Agid HJ Freund R Williamson G Auburger S Chamberlain, Nature Genetics 1993 4 3 295 299 10.1038/ng0793-295 8358438 (Pubitemid 23205180)
40. Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. A Nechiporuk I Lopes-Cendes T Nechiporuk S Starkman E Andermann GA Rouleau JS Weissenbach E Kort SM Pulst, Neurology 1996 46 6 1731 1735 8649579 (Pubitemid 26185802)
41. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. SM Pulst A Nechiporuk T Nechiporuk S Gispert XN Chen I Lopes-Cendes S Pearlman S Starkman G Orozco-Diaz A Lunkes P DeJong GA Rouleau G Auburger JR Korenberg C Figueroa S Sahba, Nature Genetics 1996 14 3 269 276 10.1038/ng1196-269 8896555
42. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. G Imbert F Saudou G Yvert D Devys Y Trottier JM Garnier C Weber JL Mandel G Cancel N Abbas A Dürr O Didierjean G Stevanin Y Agid A Brice, Nature Genetics 1996 14 3 285 291 10.1038/ng1196-285 8896557
43. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. K Sanpei H Takano S Igarashi T Sato M Oyake H Sasaki A Wakisaka K Tashiro Y Ishida T Ikeuchi R Koide M Saito A Sato T Tanaka S Hanyu Y Takiyama M Nishizawa N Shimizu Y Nomura M Segawa K Iwabuchi I Eguchi H Tanaka H Takahashi S Tsuji, Nature Genetics 1996 14 3 277 284 10.1038/ng1196-277 8896556
44. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. A Durr G Stevanin G Cancel C Duyckaerts N Abbas O Didierjean H Chneiweiss A Benomar O Lyon-Caen J Julien M Serdaru C Penet Y Agid A Brice, Annals of Neurology 1996 39 4 490 499 10.1002/ana.410390411 8619527 (Pubitemid 26118004)
45. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. L Schols G Amoiridis JT Epplen M Langkafel H Przuntek O Riess, Journal of Neurology, Neurosurgery & Psychiatry 1996 61 5 466 470 10.1136/jnnp.61.5.466 21553082 (Pubitemid 26394903)
46. The gene for Machado-Joseph disease maps to human chromosome 14q. Y Takiyama M Nishizawa H Tanaka S Kawashima H Sakamoto Y Karube H Shimazaki M Soutome K Endo S Ohta Y Kagawa I Kanazawa Y Mizuno M Yoshida T Yuasa Y Horikawa K Oyanagi H Nagai T Kondo T Inuzuka O Onodera S Tsuji, Nature Genetics 1993 4 3 300 304 10.1038/ng0793-300 8358439 (Pubitemid 23205181)
47. Polymeropoulos MH: Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. JJ Higgins LE Nee O Vasconcelos SE Ide C Lavedan LG Goldfarb, Neurology 1996 46 1 208 213 8559377 (Pubitemid 26156131)
48. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. H Maruyama S Nakamura Z Matsuyama T Sakai M Doyu G Sobue M Seto M Tsujihata T Oh-i T Nishio N Sunohara R Takahashi M Hayashi I Nishino T Ohtake T Oda M Nishimura T Saida H Matsumoto M Baba Y Kawaguchi A Kakizuka H Kawakami, Human Molecular Genetics 1995 4 5 807 812 10.1093/hmg/4.5.807 7633439
49. Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Y Takiyama K Sakoe I Nakano M Nishizawa, Neurology 1997 49 2 604 606 9270607 (Pubitemid 27368912)
50. The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains. BJ Winborn SM Travis SV Todi KM Scaglione P Xu AJ Williams RE Cohen J Peng HL Paulson, Journal of Biological Chemistry 2008 283 39 26436 26443 10.1074/jbc.M803692200 18599482
51. La forme radicuo-cordonnale posteriure des degenerescences spino-cerebelleuses. A Biemond, Rev Neurol 1954 91 2 21
52. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. K Gardner K Alderson B Galster C Kaplan M Leppert L Ptacek, Neurology 1994 44 Suppl 2 361
53. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. K Flanigan K Gardner K Alderson B Galster B Otterud MF Leppert C Kaplan LJ Ptacek, American Journal of Human Genetics 1996 59 2 392 399 8755926 (Pubitemid 26266355)
54. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. Y Hellenbroich S Bubel H Pawlack S Opitz P Vieregge E Schwinger C Zuhlke, Journal of Neurology 2003 250 6 668 671 10.1007/s00415-003-1052-x 12796826 (Pubitemid 36718352)
55. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. U Nagaoka M Takashima K Ishikawa K Yoshizawa T Yoshizawa M Ishikawa T Yamawaki S Shoji H Mizusawa, Neurology 2000 54 10 1971 1975 10822439 (Pubitemid 30327122)
56. Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. Y Onodera M Aoki H Mizuno H Warita Y Shiga Y Itoyama, Neurology 2006 67 7 1300 1302 10.1212/01.wnl.0000238507.85436.20 17030774 (Pubitemid 44563851)
57. Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings. L Torrens E Burns J Stone C Graham H Wright D Summers R Sellar M Porteous J Warner A Zeman, Acta Neurologica Scandinavica 2008 117 1 41 48 10.1111/j.1600-0404.2008.01030.x 18095954 (Pubitemid 350264502)
58. Cognitive impairment in spinocerebellar ataxia type 8. A Lilja P Hamalainen E Kaitaranta R Rinne, Journal of the Neurological Sciences 2005 237 1-2 31 38 10.1016/j.jns.2005.05.008 15958266 (Pubitemid 41384011)
59. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). MD Koob ML Moseley LJ Schut KA Benzow TD Bird JW Day LP Ranum, Nature Genetics 1999 21 4 379 384 10.1038/7710 10192387 (Pubitemid 29159573)
60. The non-coding RNAs as riboregulators. VA Erdmann MZ Barciszewska M Szymanski A Hochberg N de Groot J Barciszewski, Nucleic Acids Research 2001 29 1 189 193 10.1093/nar/29.1.189 11125087 (Pubitemid 32054443)
61. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. ML Moseley T Zu Y Ikeda W Gao AK Mosemiller RS Daughters G Chen MR Weatherspoon HB Clark TJ Ebner TJ Ebner JW Day LP Ranum, Nature Genetics 2006 38 7 758 769 10.1038/ng1827 16804541 (Pubitemid 43980596)
62. Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. A Zeman J Stone M Porteous E Burns L Barron J Warner, Journal of Neurology, Neurosurgery & psychiatry 2004 75 3 459 465 10.1136/jnnp.2003.018895 21553082 (Pubitemid 38338779)
63. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. A Rasmussen T Matsuura L Ruano P Yescas A Ochoa T Ashizawa E Alonso, Annals of Neurology 2001 50 2 234 239 10.1002/ana.1081 11506407 (Pubitemid 32738149)
64. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. HA Teive BB Roa S Raskin P Fang WO Arruda YC Neto R Gao LC Werneck T Ashizawa, Neurology 2004 63 8 1509 1512 15505178 (Pubitemid 39426293)
65. Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. E Gatto JL Etcheverry DP Converso C Bidinost A Rosa, Neurology 2007 69 2 216 218 10.1212/01.wnl.0000265596.72492.89 17620556 (Pubitemid 47051728)
66. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). T Almeida I Alonso S Martins EM Ramos L Azevedo K Ohno A Amorim ML Saraiva-Pereira LB Jardim T Matsuura J Sequeiros I Silveira, PLoS One 2009 4 2 4553 10.1371/journal.pone.0004553 19234597
67. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. T Matsuura P Fang X Lin M Khajavi K Tsuji A Rasmussen RP Grewal M Achari ME Alonso SM Pulst HY Zoghbi DL Nelson BB Roa T Ashizawa, American Journal of Human Genetics 2004 74 6 1216 1224 10.1086/421526 15127363 (Pubitemid 38669320)
68. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. M Wakamiya T Matsuura Y Liu GC Schuster R Gao W Xu PS Sarkar X Lin T Ashizawa, Neurology 2006 67 4 607 613 10.1212/01.wnl.0000231140.26253.eb 16924013 (Pubitemid 44273606)
69. Evidence of a common founder for SCA12 in the Indian population. S Bahl K Virdi U Mittal MP Sachdeva AK Kalla SE Holmes E O'Hearn RL Margolis S Jain AK Srivastava M Mukeriji, Annals of Human Genetics 2005 69 Pt 5 528 534 16138911 (Pubitemid 41309430)
70. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. SE Holmes EO Hearn CA Ross RL Margolis, Brain research bulletin 2001 56 3-4 397 403 10.1016/S0361-9230(01)00596-2 11719278 (Pubitemid 33062367)
71. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. SE Holmes EE vHearn MG McInnis DA Gorelick-Feldman JJ Kleiderlein C Callahan NG Kwak RG Ingersoll-Ashworth M Sherr AJ Sumner AH Sharp U Ananth WK Seltzer MA Boss AM Vieria-Saecker JT Epplen O Riess CA Ross RL Margolis, Nature Genetics 1999 23 4 391 392 10.1038/70493 10581021
72. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. A Brussino C Graziano D Giobbe M Ferrone E Dragone C Arduino R Lodi C Tonon A Gabellini R Rinaldi S Miccoli E Grosso MC Bellati L Orsi N Migone A Brusco, Movement Disorders 2010 25 9 1269 1273 10.1002/mds.22835 20629122
73. Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform. RE Mayer P Hendrix P Cron R Matthies SR Stone J Goris W Merlevede J Hofsteenge BA Hemmings, Biochemistry 1991 30 15 3589 3597 10.1021/bi00229a001 1849734
74. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. A Herman-Bert G Stevanin JC Netter O Rascol D Brassat P Calvas A Camuzat Q Yuan M Schalling A Durr A Brice, American Journal of Human Genetics 2000 67 1 229 235 10.1086/302958 10820125 (Pubitemid 30481561)
75. An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? MF Waters D Fee KP Figueroa D Nolte U Muller J Advincula H Coon VG Evidente SM Pulst, Neurology 2005 65 7 1111 1113 10.1212/01.wnl. 0000177490.05162.41 16135769 (Pubitemid 41429643)
76. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. KP Figueroa NA Minassian G Stevanin M Waters V Garibyan S Forlani A Strzelczyk K Bürk A Brice A Dürr DM Papazian SM Pulst, Human Mutation 2010 31 2 191 196 10.1002/humu.21165 19953606
77. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. MF Waters NA Minassian G Stevanin KP Figueroa JP Bannister D Nolte AF Mock VG Evidente DB Fee U Muller A Dürr A Brice DM Papazian SM Pulst, Nature Genetics 2006 38 4 447 451 10.1038/ng1758 16501573
78. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. S Klebe A Durr A Rentschler V Hahn-Barma M Abele N Bouslam L Schöls P Jedynak S Forlani E Denis C Dussert Y Agid P Bauer C Globas U Wüllner A Brice O Riess G Stevanin, Annals of Neurology 2005 58 5 720 729 10.1002/ana.20628 16193476 (Pubitemid 41552547)
79. Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. S Miura H Nakagawara H Kaida M Sugita K Noda K Motomura Y Ohyagi M Ayabe H Aizawa M Ishibashi T Taniwaki, Clinical Neurology and Neurosurgery 2009 111 2 211 215 10.1016/j.clineuro.2008.09.013 18986758
80. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. I Yamashita H Sasaki I Yabe T Fukazawa S Nogoshi K Komeichi A Takada K Shiraishi Y Takiyama M Nishizawa J Kaneko H Tanaka S Tsuji K Tashiro, Annals of Neurology 2000 48 2 156 163 10.1002/1531-8249(200008)48:2<156::AID-ANA43.0.CO;2-9 10939565 (Pubitemid 30617033)
81. The clinical and genetic spectrum of spinocerebellar ataxia 14. DH Chen PJ Cimino LP Ranum HY Zoghbi I Yabe L Schut RL Margolis HP Lipe A Feleke M Matsushita J Wolff C Morgan D Lau M Fernandez H Sasaki WH Raskind TD Bird, Neurology 2005 64 7 1258 1260 15824357
82. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. G Stevanin V Hahn E Lohmann N Bouslam M Gouttard C Soumphonphakdy ML Welter E Ollagnon-Roman A Lemainque M Ruberg A Brice A Durr, Archives of Neurology 2004 61 8 1242 1248 10.1001/archneur.61.8.1242 15313841 (Pubitemid 39062678)
83. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. K Hiramoto H Kawakami K Inoue T Seki H Maruyama H Morino M Matsumoto K Kurisu N Sakai, Movement Disorders 2006 21 9 1355 1360 10.1002/mds.20970 16763984 (Pubitemid 44613285)
84. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. DH Chen Z Brkanac CL Verlinde XJ Tan L Bylenok D Nochlin M Matsushita H Lipe J Wolff M Fernandez PJ Cimino TD Bird WH Raskind, American Journal of Human Genetics 2003 72 4 839 849 10.1086/373883 12644968 (Pubitemid 36403304)
85. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. MC Fahey MA Knight JH Shaw RJ Gardner D du Sart PJ Lockhart MB Delatycki PC Gates E Storey, Journal of Neurology, Neurosurgery & Psychiatry 2005 76 12 1720 1722 10.1136/jnnp.2004.044115 21553082 (Pubitemid 41697643)
86. Distribution of protein kinase C-like immunoreactive neurons in rat brain. N Saito U Kikkawa Y Nishizuka C Tanaka, Journal of Neuroscience 1988 8 2 369 382 3276831 (Pubitemid 18078066)
87. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Y Miyoshi T Yamada M Tanimura T Taniwaki K Arakawa Y Ohyagi H Furuya K Yamamoto K Sakai T Sasazuki al et, Neurology 2001 57 1 96 100 11445634 (Pubitemid 32634856)
88. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. S Miura H Shibata H Furuya Y Ohyagi M Osoegawa Y Miyoshi H Matsunaga A Shibata N Matsumoto A Iwaki T Taniwaki H Kikuchi J Kira Y Fukumaki, Neurology 2006 67 7 1236 1241 10.1212/01.wnl.0000238510.84932.82 17030759 (Pubitemid 44563834)
89. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. A Iwaki Y Kawano S Miura H Shibata D Matsuse W Li H Furuya Y Ohyagi T Taniwaki J Kira Y Fukumaki, Journal of Medical Genetics 2008 45 1 32 35 17932120 (Pubitemid 351158156)
90. A new autosomal dominant pure cerebellar ataxia. E Storey RJ Gardner MA Knight ML Kennerson RR Tuck SM Forrest GA Nicholson, Neurology 2001 57 10 1913 1915 11723290 (Pubitemid 33096709)
91. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. K Hara T Fukushima T Suzuki T Shimohata M Oyake H Ishiguro K Hirota A Miyashita R Kuwano H Kurisaki H Yomono J Goto I Kanazawa S Tsuji, Neurology 2004 62 4 648 651 14981189 (Pubitemid 38252814)
92. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. TE Dudding K Friend PW Schofield S Lee IA Wilkinson RI Richards, Neurology 2004 63 12 2288 2292 15623688 (Pubitemid 40024338)
93. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. J van de Leemput J Chandran MA Knight LA Holtzclaw S Scholz MR Cookson H Houlden K Gwinn-Hardy HC Fung X Lin, PLoS Genetics 2007 3 6 108 10.1371/journal.pgen.0030108 17590087
94. "SCA16" is really SCA15. RJ Gardner, Journal of Medical Genetics 2008 45 3 192 18310270
95. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description. MJ Novak MG Sweeney A Li C Treacy HS Chandrashekar P Giunti RG Goold MB Davis H Houlden SJ Tabrizi, Movement Disorders 2010 0 0 1 7
96. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. AC Bruni J Takahashi-Fujigasaki F Maltecca JF Foncin A Servadio G Casari P D'Adamo R Maletta SA Curcio G De Michele A Filla KH El Hachimi C Duyckaerts, Archives of Neurology 2004 61 8 1314 1320 10.1001/archneur.61.8.1314 15313853 (Pubitemid 39062691)
97. Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. C Zühlke K Bürk, The Cerebellum 2007 6 300 307 10.1080/14734220601136177 (Pubitemid 350179063)
98. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Z Brkanac M Fernandez M Matsushita H Lipe J Wolff TD Bird WH Raskind, American Journal of Medical Genetics 2002 114 4 450 457 10.1002/ajmg.10361 11992570 (Pubitemid 34525245)
99. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Z Brkanac D Spencer J Shendure PD Robertson M Matsushita T Vu TD Bird MV Olson WH Raskind, American Journal of Human Genetics 2009 84 5 692 697 10.1016/j.ajhg.2009.04.008 19409521
100. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. HJ Schelhaas PF Ippel G Hageman RJ Sinke EN van der Laan FA Beemer, Journal of Neurology 2001 248 2 113 120 10.1007/s004150170245 11284128 (Pubitemid 32245421)
101. Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. DS Verbeek JH Schelhaas EF Ippel FA Beemer PL Pearson RJ Sinke, Human Genetics 2002 111 4-5 388 393 10.1007/s00439-002-0782-7 12384780 (Pubitemid 36075065)
102. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. MY Chung YC Lu NC Cheng BW Soong, Brain 2003 126 Pt 6 1293 1299 12764052
103. SCA19 and SCA22: evidence for one locus with a worldwide distribution. HJ Schelhaas DS Verbeek BP Van de Warrenburg RJ Sinke, Brain 2004 127 Pt 1 6 14679032
104. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. MA Knight RJ Gardner M Bahlo T Matsuura JA Dixon SM Forrest E Storey, Brain 2004 127 Pt 5 1172 1181 14998916 (Pubitemid 38623050)
105. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. MA Knight D Hernandez SJ Diede HG Dauwerse I Rafferty J van de Leemput SM Forrest RJ Gardner E Storey GJ van Ommen SJ Tapscott KH Fischbeck AB Singleton, Human Molecular Genetics 2008 17 24 3847 3853 10.1093/hmg/ddn283 18801880
106. Clinical and MRI findings in spinocerebellar ataxia type 5. G Stevanin A Herman A Brice A Dürr, Neurology 1999 53 6 1355 1357 10522902 (Pubitemid 29480105)
107. Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. K Bürk C Zühlke IR König A Ziegler E Schwinger C Globas J Dichgans Y Hellenbroich, Neurology 2004 62 2 327 329 14745083 (Pubitemid 38167154)
108. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. D Devos S Schraen-Maschke I Vuillaume K Dujardin P Naze C Willoteaux A Destee B Sablonniere, Neurology 2001 56 2 234 238 11160961 (Pubitemid 32095366)
109. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. I Vuillaume D Devos S Schraen-Maschke C Dina A Lemainque F Vasseur G Bocquillon P Devos C Kocinski C Marzys A Destée B Sablonnière, Annals of Neurology 2002 52 5 666 670 10.1002/ana.10344 12402269 (Pubitemid 35246875)
110. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. DS Verbeek BP van de Warrenburg P Wesseling PL Pearson HP Kremer RJ Sinke, Brain 2004 127 Pt 11 2551 2557 15306549 (Pubitemid 39472983)
111. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. G Stevanin N Bouslam S Thobois H Azzedine L Ravaux A Boland M Schalling E Broussolle A Dürr A Brice, Annals of Neurology 2004 55 1 97 104 10.1002/ana.10798 14705117 (Pubitemid 38067366)
112. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. JC van Swieten E Brusse BM de Graaf E Krieger R van de Graaf I de Koning A Maat-Kievit P Leegwater D Dooijes BA Oostra P Heutink, American Journal of Human Genetics 2003 72 1 191 199 10.1086/345488 12489043 (Pubitemid 36056856)
113. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. A Dalski J Atici FR Kreuz Y Hellenbroich E Schwinger C Zuhlke, European Journal of Human Genetics 2005 13 1 118 120 10.1038/sj.ejhg.5201286 15470364
114. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. U Edener J Wöllner U Hehr Z Kohl S Schilling F Kreuz P Bauer V Bernard G Gillessen-Kaesbach C Zühlke, European Journal of Human Genetics 2010 18 8 965 968 10.1038/ejhg.2010.40 20354562
115. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. C Cagnoli C Mariotti F Taroni M Seri A Brussino C Michielotto M Grisoli D Di Bella N Migone C Gellera S Di Donato A Brusco, Brain 2006 129 Pt 1 235 242 16251216 (Pubitemid 43063774)
116. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. C Cagnoli G Stevanin A Brussino M Barberis C Mancini RL Margolis SE Holmes M Nobili S Forlani S Padovan P Pappi C Zaros I Leber P Ribai L Pugliese C Assalto A Brice N Migone A Dürr A Brusco, Human Mutation 2010 31 0 1 8 20024939
117. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. D Di Bella F Lazzaro A Brusco M Plumari G Battaglia A Pastore A Finardi C Cagnoli F Tempia M Frontali L Veneziano T Sacco E Boda A Brussino F Bonn B Castellotti S Baratta C Mariotti C Gellera V Fracasso S Magri T Langer P Plevani S Di Donato M Muzi-Falconi F Taroni, Nature Genetics 2010 42 4 313 321 10.1038/ng.544 20208537
118. 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. H Takano G Cancel T Ikeuchi D Lorenzetti R Mawad G Stevanin O Didierjean A Dürr M Oyake T Shimohata R Sasaki R Koide S Igarashi S Hayashi Y Takiyama M Nishizawa H Tanaka H Zoghbi A Brice S Tsuji, American Journal of Human Genetics 1998 63 4 1060 1066 10.1086/302067 9758625 (Pubitemid 30418575)
119. A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. TT Warner LD Williams RW Walker F Flinter SA Robb SE Bundey M Honavar AE Harding, Annals of Neurology 1995 37 4 452 459 10.1002/ana.410370407 7717681
120. Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. A Nørremølle JE Nielsen SA Sørensen L Hasholt, Human Genetics 1995 95 3 313 318 7868125
121. Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. M Connarty NR Dennis C Patch JN Macpherson JF Harvey, Human Genetics 1996 97 1 76 78 8557266 (Pubitemid 26002978)
122. Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy. F Villani C Gellera R Spreafico B Castellotti M Casazza F Carrara G Avanzini, Acta Neurologica Scandinavica 1998 98 5 324 327 9858102 (Pubitemid 28539735)
123. Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study. E Mũoz M Mil A Sánchez P Latorre A Ariza M Codina F Ballesta E Tolosa, Journal of Neurology, Neurosurgery & Psychiatry 1999 67 6 811 814 10.1136/jnnp.67.6.811 21553082
124. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. A Filla C Mariotti G Caruso G Coppola S Cocozza I Castaldo O Calabrese E Salvatore G De Michele MC Riggio D Pareyson C Gellera S Di Donato, European Neurology 2000 44 1 31 36 10.1159/000008189 10894992 (Pubitemid 30456789)
125. The first identified French family with dentatorubral-pallidoluysian atrophy. A Destée I Delalande I Vuillaume S Schraen-Maschke L Defebvre B Sablonnière, Movement Disorders 2000 15 5 996 999 10.1002/1531- 8257(200009)15:5<996::AID-MDS10363.0.CO;2-9 11009212
126. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. MW Becher DC Rubinsztein J Leggo MV Wagster OC Stine NG Ranen ML Franz MH Abbott M Sherr JC MacMillan L Barron M Porteous PS Harper CA Ross, Movement Disorders 1997 12 4 519 530 10.1002/mds.870120408 9251070 (Pubitemid 27322881)
127. Dentatorubral pallidoluysian atrophy in a Turkish family. U Yis E Dirik A Gündogdu-Eken AN Basak, The Turkish journal of pediatrics 2009 51 6 610 612 20196398
128. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. H Naito S Oyanagi, Neurology 1982 32 8 798 807 6808417 (Pubitemid 12097663)
129. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. T Ikeuchi R Koide H Tanaka O Onodera S Igarashi H Takahashi R Kondo A Ishikawa A Tomoda T Miike K Sato Y Ihara T Hayabara F Isa H Tanabe S Tokiguchi M Hayashi N Shimuzu F Ikuta H Naito S Tsuji, Annals of Neurology 1995 37 6 769 775 10.1002/ana.410370610 7778850
130. Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy. E Mũoz J Campdelacreu I Ferrer MJ Rey A Cardozo B Gámez E Tolosa, Archives of Neurology 2004 61 6 946 949 10.1001/archneur.61.6.946 15210537 (Pubitemid 38747339)
131. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. M Yamada JD Wood T Shimohata S Hayashi S Tsuji CA Ross H Takahashi, Annals of Neurology 2001 49 1 14 23 10.1002/1531-8249(200101)49:1<14::AID- ANA53.0.CO;2-X 11198291 (Pubitemid 32163001)
132. Massively parallel sequencing: the next big thing in genetic medicine. T Tucker M Marra JM Friedman, The American Journal of Human Genetics 2009 85 2 142 154 10.1016/j.ajhg.2009.06.022