TY - JOUR
T1 - Spinocerebellar ataxia type 10 in Peru
T2 - the missing link in the Amerindian origin of the disease
AU - Leonardi, Luca
AU - Marcotulli, Christian
AU - McFarland, Karen N.
AU - Tessa, Alessandra
AU - DiFabio, Roberto
AU - Santorelli, Filippo M.
AU - Pierelli, Francesco
AU - Ashizawa, Tetsuo
AU - Casali, Carlo
N1 - Publisher Copyright:
© 2014, Springer-Verlag Berlin Heidelberg.
PY - 2014/9
Y1 - 2014/9
N2 - 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.
AB - 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.
KW - Epilepsy
KW - SCA10
KW - Spinocerebellar ataxia
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U2 - 10.1007/s00415-014-7394-8
DO - 10.1007/s00415-014-7394-8
M3 - Article
C2 - 24935856
AN - SCOPUS:84939893123
SN - 0340-5354
VL - 261
SP - 1691
EP - 1694
JO - Journal of Neurology
JF - Journal of Neurology
IS - 9
ER -