Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease

Luca Leonardi, Christian Marcotulli, Karen N. McFarland, Alessandra Tessa, Roberto DiFabio, Filippo M. Santorelli, Francesco Pierelli, Tetsuo Ashizawa, Carlo Casali

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1691-1694
Number of pages4
JournalJournal of Neurology
Volume261
Issue number9
DOIs
Publication statusPublished - 2014

Keywords

  • Epilepsy
  • SCA10
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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