Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.
Teive
H A G
HA
Neurology Service, Federal University of Paraná, Curitiba, Brazil.
Roa
B B
BB
Raskin
S
S
Fang
P
P
Arruda
W O
WO
Neto
Y Correa
YC
Gao
R
R
Werneck
L C
LC
Ashizawa
T
T
D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D020132:Anticipation, Genetic / Q000235:genetics; D000067736:Ataxin-10; D001938:Brazil / Q000453:epidemiology; D002648:Child; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008800:Mexico / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D000067736:Ataxin-10; C496258:Atxn10 protein, rat; D009419:Nerve Tissue Proteins