ETHNIC ORIGIN AND EXTRAPYRAMIDAL SIGNS IN AN ARGENTINEAN SPINOCEREBELLAR ATAXIA TYPE 10 FAMILY

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disease caused by an expansion of an intronic ATTCT repeat in the ATXN10 gene on 22q13.3.1 Pathogenic alleles have 800 to 4,500 ATTCTs (normal alleles 10 to 29).1,2 Whereas Mexican SCA10 families showed progressive ataxia associated with seizures, polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment,3,4 Brazilian SCA10 families uniformly showed pure cerebellar ataxia.5 We describe clinical and molecular findings in two affected members from an Argentinean family with SCA10. ### Methods. With informed consent, we evaluated three siblings and their mother from an Argentine family with Spanish and Amerindian ancestries (figure, A). The pedigree was extended to deceased members based on the information obtained from the relatives. The analysis of the ATTCT repeated region in the SCA10 gene was performed by PCR, repeat-primed PCR, and Southern blot analyses as described elsewhere.1 Figure The Argentinean family with spinocerebellar ataxia type 10 (SCA10) (A) Pedigree of the family. A number in brackets is the age at onset. Two numbers separated by a diagonal line in parentheses are ATTCT repeat numbers. An arrow …