Archives of neurology · 2007
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.
Клинический случайСтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Raskin Salmo, Ashizawa Tetsuo, Teive Hélio A G, Arruda Walter O, Fang Ping, Gao Rui, White Misti C, Werneck Lineu C, Roa Benjamin
Аннотация
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.
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.