Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia

Journal of Human Genetics

Volumn 52, Issue 8, 2007, Pages 643-649

  Amino, Takeshi ^a   Ishikawa, Kinya ^a   Toru, Shuta ^a   Ishiguro, Taro ^a   Sato, Nozomu ^a   Tsunemi, Taiji ^a   Murata, Miho ^b   Kobayashi, Kazuhiro ^c   Inazawa, Johji ^a   Toda, Tatsushi ^c   Mizusawa, Hidehiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

16q ADCA; Founder effect; Haplotype; Pure cerebellar ataxia; SCA4; SNP

Indexed keywords

PROTEIN; PURATROPHIN 1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CHROMOSOME SUBSTITUTION; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; MICROSATELLITE MARKER; SINGLE NUCLEOTIDE POLYMORPHISM;

CEREBELLAR ATAXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; GENES, DOMINANT; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); POLYMORPHISM, SINGLE NUCLEOTIDE; SPECTRIN;

EID: 34547135675     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0154-1     Document Type: Article

References (25)

1. Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A (2006) SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129:235-242
2. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849
3. Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ (1996) 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
4. Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the "Drew family of Walworth." Brain 105:1-28
5. Hellenbroich Y, Pawlack H, Rub U, Schwinger E, Zuhlke Ch (2005) Spinocerebellar ataxia type 4. Investigation of 34 candidate genes. J Neurol 252:1472-1475
6. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker A-M, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
7. Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP (2004) Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 75:3-16
8. Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP (2006) Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 38:184-190
9. Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H (1997) 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. Am J Hum Genet 61:336-346
10. Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H (2005) An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine nucleotide exchange-factor domains. Am J Hum Genet 77:280-296
11. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384
12. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194
13. Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H (2000) A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54:1971-1975
14. Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura K, Fukushima Y, Ikeda S, Matsumoto N (2006) A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. J Hum Genet 51:461-466
15. Onodera Y, Aoki M, Mizuno H, Warita H, Shiga Y, Itoyama Y (2006) Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. Neurology 67:1300-1302
16. Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, Mizusawa H, Nakano I, Takiyama Y (2006) 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. J Neurol Sci 247:180-186
17. Ross CA, Poirier MA (2004) Protein aggregation and neurodegenerative disease. Nat Med 10 Suppl:S10-S17
18. Sasaki H, Yabe I, Tashiro K (2003) The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 100:198-205
19. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291-304
20. van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 72:191-199
21. Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Durr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S (1998) 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
22. Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H (2001) 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
23. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 38:447-451
24. Wieczorek S, Arning L, Alheite I, Epplen JT (2006) Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet 51: 363-367
25. Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM (2005) Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol 57:349-354