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Reduced Penetrance in a Brazilian Family With Spinocerebellar Ataxia Type 10
Salmo Raskin, MD, PhD;
Tetsuo Ashizawa, MD;
Hélio A. G. Teive, MD, PhD;
Walter O. Arruda, MD, MSc;
Ping Fang, PhD;
Rui Gao, MD;
Misti C. White, BS;
Lineu C. Werneck, MD, PhD;
Benjamin Roa, PhD
Arch Neurol. 2007;64(4):591-594.
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.
Author Affiliations: Genetika Laboratory, Alameda Augusto Stellfeld (Dr Raskin) and Neurology Service, Federal University of Paraná (Drs Teive, Arruda, and Werneck), Curitiba, Brazil; Department of Neurology, University of Texas Medical Branch, Galveston (Drs Ashizawa and Gao and Ms White); and Medical Genetics Laboratories, Baylor College of Medicine, Houston, Tex (Drs Fang and Roa).
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