Clinical neurology and neurosurgery · 2008
CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.
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Munhoz Renato P, Teive Hélio A, Raskin Salmo, Werneck Lineu C
Аннотация
OBJECTIVE: Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder characterized by cerebellar ataxia with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia. From a clinical standpoint, SCA 8 and the cerebellar form of multiple system atrophy (MSA-C) share several common features.
METHODS: We studied the presence of expanded SCA 8 alleles in 10 sporadic patients with probable MSA-C.
RESULTS: We found 1 patient with a heterozygous CTA/CTG repeat expansion in the pathological range. Clinically this subject presented no features that differed from the other subjects carrying smaller repeat sizes.
CONCLUSIONS: We believe that the association of SCA 8 repeat expansions with sporadic, atypical and heterogeneous phenotypes is debatable and should be interpreted with caution. Our personal conclusion is that testing in such patients may become a source of diagnostic confusion.
METHODS: We studied the presence of expanded SCA 8 alleles in 10 sporadic patients with probable MSA-C.
RESULTS: We found 1 patient with a heterozygous CTA/CTG repeat expansion in the pathological range. Clinically this subject presented no features that differed from the other subjects carrying smaller repeat sizes.
CONCLUSIONS: We believe that the association of SCA 8 repeat expansions with sporadic, atypical and heterogeneous phenotypes is debatable and should be interpreted with caution. Our personal conclusion is that testing in such patients may become a source of diagnostic confusion.