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CTA/CTG expansions at the SCA 8 locus in multiple system atrophy
Renato P Munhoz1, Hélio A Teive, Salmo Raskin
1Department of Neurology, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. renatopuppi@yahoo.com
Clinical Neurology and Neurosurgery
|November 5, 2008
Summary
Spinocerebellar ataxia type 8 (SCA 8) repeat expansions were investigated in patients with multiple system atrophy-cerebellar type (MSA-C). One patient had an expanded SCA 8 allele, but showed no distinct clinical features, suggesting caution in diagnosis.
Area of Science:
- Neurogenetics
- Neurology
Background:
- Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder presenting with cerebellar ataxia and other neurological signs.
- SCA 8 and the cerebellar form of multiple system atrophy (MSA-C) exhibit overlapping clinical features, complicating differential diagnosis.
Observation:
- This study examined 10 sporadic patients diagnosed with probable MSA-C for the presence of expanded SCA 8 alleles.
- One patient was identified with a heterozygous CTA/CTG repeat expansion within the pathological range for SCA 8.
Findings:
- The patient with the expanded SCA 8 allele did not present with clinical characteristics that differentiated them from other subjects with smaller repeat sizes.
- The presence of expanded SCA 8 alleles in sporadic, atypical, and heterogeneous neurological phenotypes requires careful interpretation.
Implications:
- The association of SCA 8 repeat expansions with MSA-C phenotypes is considered debatable and warrants cautious clinical interpretation.
- Genetic testing for SCA 8 in patients with suspected MSA-C may lead to diagnostic ambiguity and confusion.
