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


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


METHODS
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.


CONCLUSIONS
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.
Raskin
Salmo
S
Genetika Laboratory, Alameda Augusto Stellfeld, Curitiba, Brazil.
Ashizawa
Tetsuo
T
Teive
Hélio A G
HA
Arruda
Walter O
WO
Fang
Ping
P
Gao
Rui
R
White
Misti C
MC
Werneck
Lineu C
LC
Roa
Benjamin
B
D000328:Adult; D000067736:Ataxin-10; D001938:Brazil; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology
C503889:ATXN10 protein, human; D000067736:Ataxin-10; D009419:Nerve Tissue Proteins