Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.
Teive
Hélio A G
HA
Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil. hagteive@mps.com.br
Munhoz
Renato P
RP
Raskin
Salmo
S
Arruda
Walter O
WO
de Paola
Luciano
L
Werneck
Lineu C
LC
Ashizawa
Tetsuo
T
D000328:Adult; D017668:Age of Onset; D000067736:Ataxin-10; D001938:Brazil; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000453:epidemiology* / Q000235:genetics
C503889:ATXN10 protein, human; D000067736:Ataxin-10; D009419:Nerve Tissue Proteins
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