Abstract
Clinical heterogeneity is the prominent feature of spinocerebellar ataxia type 3 (SCA3)
which is sometimes neglected and often impedes the timely diagnosis of patients. In
this study, the clinical data of 201 unrelated Chinese SCA3 patients were retrospectively
studied. The rare clinical features were summarized and the underlying genetic mutations
were screened by direct DNA sequencing. Three patients were found primarily presenting
with the rare clinical features, including dystonic phenotype without response to
levodopa, chorea and memory decline, and hearing impairment, respectively. We firstly
reported three diverse heterogeneities of SCA3 patients, which are quite uncommon
in the Chinese SCA3 patients. Our results expanded the variable phenotypes of SCA3
and provided the explicit information for the rare and special SCA3 manifestations.
Based on this new knowledge, we suggested that when the presentation was consistent
with HD or DRD while negative in the corresponding genetic testing, SCA3 should be
considered, and clinicians should divert partial attention to the examinations on
the auditory system of SCA3 patients.
Keywords
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References
- Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder.Neurology. 1976; 26: 703-714
- Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.Arch Neurol. 2000; 57: 540-544
- High frequency of Machado–Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.BMC Med Genet. 2010; 11: 47-55
- CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1.Nat Genet. 1994; 8: 221-228
- A clinical and pathologic study of a large Japanese family with Machado–Joseph disease tightly linked to the DNA markers on chromosome 14q.Neurology. 1994; 44: 1302-1308
- Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.Clin Genet. 2008; 74: 513-521
- Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.Clin Genet. 2012; 9999
- SCA3: neurological features, pathogenesis and animal models.Cerebellum. 2008; 7: 125-137
- Machado–Joseph disease: a proposal of spastic paraplegic subtype.Neurology. 1996; 46: 846-847
- Chinese patients with Machado–Joseph disease presenting with complicated hereditary spastic paraplegia.Eur J Neurol. 2009; 16: 953-956
- Machado–Joseph-Azorean disease. A ten-year study.Arch Neurol. 1984; 41: 921-925
- The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family.Parkinsonism Relat Disord. 2004; 10: 369-373
- Spinocerebellar ataxia type 3 presenting as an L-dopa responsive dystonia phenotype in a Chinese family.J Neurol Sci. 2003; 213: 25-28
- Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3.Postgrad Med J. 2004; 80: 363-365
- Machado–Joseph disease presenting as severe generalised dystonia in a German patient.J Neurol. 1999; 246: 840-842
- Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.Neurology. 2008; 71: 982-989
- Huntington's disease phenocopies are clinically and genetically heterogeneous.Mov Disord. 2008; 23: 716-720
- Extrapyramidal motor signs in degenerative ataxias.Arch Neurol. 2000; 57: 1495-1500
- Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?.Ann Neurol. 1997; 42: 924-932
- Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.Brain. 1997; 120: 2141-2148
- Spinocerebellar ataxia 3 and Machado–Joseph disease: clinical, molecular, and neuropathological features.Ann Neurol. 1996; 39: 490-499
- Machado–Joseph disease with retinal degeneration and dementia.Acta Neurol Scand. 2001; 104: 402-405
- Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7).Neuropathol Appl Neurobiol. 2008; 34: 479-491
Article info
Publication history
Published online: November 21, 2012
Accepted:
October 30,
2012
Received in revised form:
October 27,
2012
Received:
September 24,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
