Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3
Author:
Affiliation:
1. Department of Neurology, Graduate School of Medicine, Chiba University, Japan
2. Division of Clinical Genetics, Chiba University Hospital, Japan
3. Division of Laboratory Medicine, Chiba University Hospital, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/58/1/58_1382-18/_pdf
Reference11 articles.
1. 1. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14qq32.1. Nat Genet 8: 221-228, 1994.
2. 2. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39: 490-499, 1996.
3. 3. C França M Jr, D'abreu A, Nucci A, Cendes F, Lopes-Cendes I. Prospective study of peripheral neuropathy in Machado-Joseph disease. Muscle Nerve 40: 1012-1018, 2009.
4. 4. van Schaik IN, Jöbsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. J Neurol Neurosurg Psychiatry 63: 534-536, 1997.
5. 5. van Alfen N, Sinke RJ, Zwarts MJ, et al. Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol 49: 805-807, 2001.
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