Sporadic SCA8 mutation resembling corticobasal degeneration

被引：18

作者：

Baba, Y

Uitti, RJ

Farrer, MJ

Wszolek, ZK

机构：

[1] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[2] Mayo Clin, Sect Neurosci, Jacksonville, FL 32224 USA

来源：

PARKINSONISM & RELATED DISORDERS | 2005年 / 11卷 / 03期

关键词：

corticobasal degeneration; clinical presentation; spinocerebellar ataxia type 8; sporadic;

D O I：

10.1016/j.parkreldis.2004.10.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study. (c) 2004 Elsevier Ltd. All rights reserved.

引用

页码：147 / 150

页数：4

共 19 条

[1] Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy
Cellini, E
Forleo, P
Nacmias, B
Tedde, A
Latorraca, S
Piacentini, S
Parnetti, L
Gallai, V
Sorbi, S
[J]. BRAIN RESEARCH BULLETIN, 2001, 56 (3-4) : 363 - 366
[2] Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy
Cellini, E
Nacmias, B
Forleo, P
Piacentini, S
Guarnieri, BM
Serio, A
Calabrò, A
Renzi, D
Sorbi, S
[J]. ARCHIVES OF NEUROLOGY, 2001, 58 (11) : 1856 - 1859
[3] Spinocerebellar ataxia type 8 - Clinical features in a large family
Day, JW
Schut, LJ
Moseley, ML
Durand, AC
Ranum, LPW
[J]. NEUROLOGY, 2000, 55 (05) : 649 - 657
[4] AUTOSOMAL RECESSIVE LATE ONSET MULTISYSTEM DISORDER WITH CEREBELLAR CORTICAL ATROPHY AT NECROPSY - REPORT OF A FAMILY
HARDING, AE
DIENGDOH, JV
LEES, AJ
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1984, 47 (08) : 853 - 856
[5] Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
Ikeda, Y
Shizuka, M
Watanabe, M
Okamoto, K
Shoji, M
[J]. NEUROLOGY, 2000, 54 (04) : 950 - 955
[6] Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia
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, LPW
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (01) : 3 - 16
[7] Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI
Ikeda, Y
Shizuka-Ikeda, M
Watanabe, M
Schmitt, N
Okamoto, K
Shoji, M
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2000, 182 (01) : 76 - 79
[8] SCA8 repeat expansion:: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6
Izumi, Y
Maruyama, H
Oda, M
Morino, H
Okada, T
Ito, H
Sasaki, I
Tanaka, H
Komure, O
Udaka, F
Nakamura, S
Kawakami, H
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) : 704 - 709
[9] Juvonen V, 2000, ANN NEUROL, V48, P354, DOI 10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.3.CO
[10] 2-1

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