title: Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.
abstract: Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder manifested by ataxia with a variable presentation of epileptic seizures, which is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in ATXN10 on 22q13.3. Herein, we report the first description of SCA10 in a Peruvian family, supporting the Amerindian origin of SCA10 and the Panamerican geographical distribution of the disease in North, Central and South America. Moreover, the presence of an interruption motif in the SCA10 expansion along with epileptic seizures in this family supports the correlation between the two, as seen in other families. Finally, this is the first SCA10 patient ever observed outside of America, specifically in Italy. Since this patient is a Peruvian immigrant of Amerindian ancestry, our case report highlights the growing need for awareness amongst clinicians of seemingly geographically restricted rare diseases.
authors.affiliation: Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Latina, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Leonardi
authors.forename: Christian
authors.initials: C
authors.lastname: Marcotulli
authors.forename: Karen N
authors.initials: KN
authors.lastname: McFarland
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Roberto
authors.initials: R
authors.lastname: DiFabio
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Pierelli
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
mesh_terms: D000328:Adult; D000067736:Ataxin-10; D042622:DNA Repeat Expansion / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005190:Family / Q000208:ethnology*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010568:Peru / Q000208:ethnology; D020754:Spinocerebellar Ataxias / Q000208:ethnology* / Q000235:genetics*
chemical_list: C503889:ATXN10 protein, human; D000067736:Ataxin-10; D009419:Nerve Tissue Proteins