메뉴 건너뛰기




Volumn 116, Issue 2, 2007, Pages 123-127

Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan

Author keywords

Autosomal dominant cerebellar ataxia; Leukoaraiosis; Prevalence; Puratrophin 1; Spinocerebellar ataxia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONTROLLED STUDY; EPIDEMIOLOGICAL DATA; FEMALE; GENETIC ANALYSIS; HUMAN; JAPAN; LABORATORY TEST; MALE; PREVALENCE; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 34547406281     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2007.00815.x     Document Type: Article
Times cited : (17)

References (28)
  • 1
    • 30344475206 scopus 로고    scopus 로고
    • SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2
    • Cagnoli C, Mariotti C, Taroni F et al. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 2006 129 : 235 42.
    • (2006) Brain , vol.129 , pp. 235-42
    • Cagnoli, C.1    Mariotti, C.2    Taroni, F.3
  • 2
    • 85047698133 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
    • Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K. Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 2002 10 : 204 9.
    • (2002) Eur J Hum Genet , vol.10 , pp. 204-9
    • Zuhlke, C.1    Dalski, A.2    Hellenbroich, Y.3    Bubel, S.4    Schwinger, E.5    Burk, K.6
  • 3
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996 14 : 285 91.
    • (1996) Nat Genet , vol.14 , pp. 285-91
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 4
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994 8 : 221 8.
    • (1994) Nat Genet , vol.8 , pp. 221-8
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 5
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997 15 : 62 9.
    • (1997) Nat Genet , vol.15 , pp. 62-9
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 6
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997 17 : 65 70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 7
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K, Jeong SY, Uchihara T et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001 10 : 1411 8.
    • (2001) Hum Mol Genet , vol.10 , pp. 1411-8
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3
  • 8
    • 0028060244 scopus 로고
    • Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
    • Nagafuchi S, Yanagisawa H, Ohsaki E et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 1994 8 : 177 82.
    • (1994) Nat Genet , vol.8 , pp. 177-82
    • Nagafuchi, S.1    Yanagisawa, H.2    Ohsaki, E.3
  • 9
    • 0032900772 scopus 로고    scopus 로고
    • An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    • Koob MD, Moseley ML, Schut LJ et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999 21 : 379 84.
    • (1999) Nat Genet , vol.21 , pp. 379-84
    • Koob, M.D.1    Moseley, M.L.2    Schut, L.J.3
  • 10
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000 26 : 191 4.
    • (2000) Nat Genet , vol.26 , pp. 191-4
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3
  • 11
    • 0032727249 scopus 로고    scopus 로고
    • Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
    • Holmes SE, O'Hearn EE, Mcinnis MG et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999 23 : 391 2.
    • (1999) Nat Genet , vol.23 , pp. 391-2
    • Holmes, S.E.1    O'Hearn, E.E.2    McInnis, M.G.3
  • 12
    • 31744441984 scopus 로고    scopus 로고
    • Spectrin mutations cause spinocerebellar ataxia type 5
    • Ikeda Y, Dick KA, Weatherspoon MR et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006 38 : 184 90.
    • (2006) Nat Genet , vol.38 , pp. 184-90
    • Ikeda, Y.1    Dick, K.A.2    Weatherspoon, M.R.3
  • 13
    • 33645421783 scopus 로고    scopus 로고
    • Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
    • Waters MF, Minassian NA, Stevanin G et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006 38 : 447 51.
    • (2006) Nat Genet , vol.38 , pp. 447-51
    • Waters, M.F.1    Minassian, N.A.2    Stevanin, G.3
  • 14
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia
    • van Swieten JC, Brusse E, De Graaf BM et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003 72 : 191 9.
    • (2003) Am J Hum Genet , vol.72 , pp. 191-9
    • Van Swieten, J.C.1    Brusse, E.2    De Graaf, B.M.3
  • 15
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • 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 2003 72 : 839 49.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-49
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 16
    • 22544448383 scopus 로고    scopus 로고
    • 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
    • Ishikawa K, Toru S, Tsunemi T et al. 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 2005 77 : 280 96.
    • (2005) Am J Hum Genet , vol.77 , pp. 280-96
    • Ishikawa, K.1    Toru, S.2    Tsunemi, T.3
  • 17
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996 59 : 392 9.
    • (1996) Am J Hum Genet , vol.59 , pp. 392-9
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3
  • 18
    • 33744969581 scopus 로고    scopus 로고
    • A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
    • Ohata T, Yoshida K, Sakai H et al. 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 2006 51 : 461 6.
    • (2006) J Hum Genet , vol.51 , pp. 461-6
    • Ohata, T.1    Yoshida, K.2    Sakai, H.3
  • 19
    • 0037043031 scopus 로고    scopus 로고
    • Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
    • Maruyama H, Izumi Y, Morino H et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 2002 114 : 578 83.
    • (2002) Am J Med Genet , vol.114 , pp. 578-83
    • Maruyama, H.1    Izumi, Y.2    Morino, H.3
  • 20
    • 0344531062 scopus 로고    scopus 로고
    • The hereditary spinocerebellar ataxias in Japan
    • Sasaki H, Yabe I, Tashiro K. The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 2003 100 : 198 205.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 198-205
    • Sasaki, H.1    Yabe, I.2    Tashiro, K.3
  • 21
    • 0035010910 scopus 로고    scopus 로고
    • A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan
    • Mori M, Adachi Y, Kusumi M, Nakashima K. A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan. Neuroepidemiology 2001 20 : 144 9.
    • (2001) Neuroepidemiology , vol.20 , pp. 144-9
    • Mori, M.1    Adachi, Y.2    Kusumi, M.3    Nakashima, K.4
  • 22
    • 33748082650 scopus 로고    scopus 로고
    • 16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
    • Ouyang Y, Sakoe K, Shimazaki H et al. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. J Neurol Sci 2006 247 : 180 6.
    • (2006) J Neurol Sci , vol.247 , pp. 180-6
    • Ouyang, Y.1    Sakoe, K.2    Shimazaki, H.3
  • 23
    • 22144452207 scopus 로고    scopus 로고
    • Do vascular lesions and related risk factors influence responsiveness to donepezil chloride in patients with Alzheimer's disease?
    • Fukui T, Taguchi S. Do vascular lesions and related risk factors influence responsiveness to donepezil chloride in patients with Alzheimer's disease? Dement Geriatr Cogn Disord 2005 20 : 15 24.
    • (2005) Dement Geriatr Cogn Disord , vol.20 , pp. 15-24
    • Fukui, T.1    Taguchi, S.2
  • 24
    • 0034986196 scopus 로고    scopus 로고
    • A new rating scale for age-related white matter changes applicable to MRI and CT
    • Wahlund LO, Barkhof F, Fazekas F et al. A new rating scale for age-related white matter changes applicable to MRI and CT. Stroke 2001 32 : 1318 22.
    • (2001) Stroke , vol.32 , pp. 1318-22
    • Wahlund, L.O.1    Barkhof, F.2    Fazekas, F.3
  • 25
    • 0019902437 scopus 로고
    • 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'
    • Harding AE. 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'. Brain 1982 105 : 1 28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 26
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993 61 : 1 14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 27
    • 0031456508 scopus 로고    scopus 로고
    • Atrophy of cerebellum and brainstem in dentatorubral pallidoluysian atrophy: Influence of CAG repeat size on MRI findings
    • Koide R, Onodera O, Ikeuchi T et al. Atrophy of cerebellum and brainstem in dentatorubral pallidoluysian atrophy: influence of CAG repeat size on MRI findings. Neurology 1997 49 : 1605 12.
    • (1997) Neurology , vol.49 , pp. 1605-12
    • Koide, R.1    Onodera, O.2    Ikeuchi, T.3
  • 28
    • 2642574857 scopus 로고    scopus 로고
    • Silent cerebral white matter lesions and cognitive function in middle-aged essential hypertensive patients
    • Sierra C, de La Sierra A, Salamero M, Sobrino J, Gomez-Angelats E, Coca A. Silent cerebral white matter lesions and cognitive function in middle-aged essential hypertensive patients. Am J Hypertens 2004 17 : 529 34.
    • (2004) Am J Hypertens , vol.17 , pp. 529-34
    • Sierra, C.1    De La Sierra, A.2    Salamero, M.3    Sobrino, J.4    Gomez-Angelats, E.5    Coca, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.