title: Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil. hagteive@mps.com.br
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Renato P
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Walter O
authors.initials: WO
authors.lastname: Arruda
authors.forename: Luciano
authors.initials: L
authors.lastname: de Paola
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
mesh_terms: 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
chemical_list: C503889:ATXN10 protein, human; D000067736:Ataxin-10; D009419:Nerve Tissue Proteins
references.citation: Nat Genet. 2000 Oct;26(2):191-4
references.pmid: 11017075
references.citation: Epilepsy Behav. 2008 May;12(4):540-6
references.pmid: 18280210
references.citation: Am J Hum Genet. 2006 Jan;78(1):125-9
references.pmid: 16385455
references.citation: Arch Neurol. 2002 Aug;59(8):1285-90
references.pmid: 12164725
references.citation: Ann Neurol. 2001 Aug;50(2):234-9
references.pmid: 11506407
references.citation: Arq Neuropsiquiatr. 2007 Dec;65(4A):965-8
references.pmid: 18094855
references.citation: Arq Neuropsiquiatr. 2007 Jun;65 Suppl 1:5-13
references.pmid: 17581662
references.citation: Am J Hum Genet. 1999 Feb;64(2):594-9
references.pmid: 9973298
references.citation: Neurology. 2002 Mar 26;58(6):983-4
references.pmid: 11914424
references.citation: PLoS One. 2009;4(2):e4553
references.pmid: 19234597
references.citation: Arch Neurol. 2007 Apr;64(4):591-4
references.pmid: 17420323
references.citation: Epilepsy Res. 2009 Jul;85(1):31-45
references.pmid: 19369037
references.citation: Ann Neurol. 1999 Mar;45(3):407-11
references.pmid: 10072060
references.citation: Gene. 2009 Apr 1;434(1-2):29-34
references.pmid: 19171184
references.citation: Neurology. 2004 Oct 26;63(8):1509-12
references.pmid: 15505178
references.citation: Neurology. 2007 Jul 10;69(2):216-8
references.pmid: 17620556
references.citation: Am J Hum Genet. 2004 Jun;74(6):1216-24
references.pmid: 15127363