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Arch Neurol. 2007 Apr;64(4):591-4.

Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.

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  • 1Genetika Laboratory, Alameda Augusto Stellfeld, Curitiba, Brazil.

Abstract

OBJECTIVE:

To describe reduced penetrance associated with early onset in a Brazilian family with spinocerebellar ataxia type 10.

DESIGN:

Clinical examination and molecular analysis for the ATTCT repeat responsible for spinocerebellar ataxia type 10 in a patient and family members through 3 generations.

SETTING:

Ambulatory care. Patients A 28-year-old female Brazilian patient who presented with early-onset cerebellar ataxia and epilepsy, and her 9 asymptomatic relatives. Main Outcome Measure Genotype-phenotype correlation.

RESULTS:

Molecular testing on this patient showed an expansion of approximately 850 ATTCT repeats at the SCA10 locus. Similar SCA10 expansions of approximately 850 repeats were identified in 6 of 8 asymptomatic paternal relatives examined.

CONCLUSION:

The stably transmitted pentanucleotide expansion of approximately 850 repeats may represent a mutant SCA10 allele with reduced penetrance that may express an early-onset, severe phenotype.

[PubMed - indexed for MEDLINE]
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