Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease
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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.
KeywordsSpinocerebellar ataxia SCA10 Epilepsy
We would like to acknowledge Massimiliano DiMicco, MD, for his brilliant clinical insight.
Conflicts of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
This study has been approved by the appropriate ethics committee and has therefore been performed in the accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.
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