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 journalArticle

10 Citations (Scopus)

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

Fingerprint

Peru
Epilepsy
Central America
South America
Ataxia
Rare Diseases
North America
Neurodegenerative Diseases
Microsatellite Repeats
Italy
Spinocerebellar Ataxia 10

Keywords

  • Epilepsy
  • SCA10
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Leonardi, L., Marcotulli, C., McFarland, K. N., Tessa, A., DiFabio, R., Santorelli, F. M., ... Casali, C. (2014). Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease. Journal of Neurology, 261(9), 1691-1694. https://doi.org/10.1007/s00415-014-7394-8

Spinocerebellar ataxia type 10 in Peru : the missing link in the Amerindian origin of the disease. / Leonardi, Luca; Marcotulli, Christian; McFarland, Karen N.; Tessa, Alessandra; DiFabio, Roberto; Santorelli, Filippo M.; Pierelli, Francesco; Ashizawa, Tetsuo; Casali, Carlo.

In: Journal of Neurology, Vol. 261, No. 9, 2014, p. 1691-1694.

Research output: Contribution to journalArticle

Leonardi, L, Marcotulli, C, McFarland, KN, Tessa, A, DiFabio, R, Santorelli, FM, Pierelli, F, Ashizawa, T & Casali, C 2014, 'Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease', Journal of Neurology, vol. 261, no. 9, pp. 1691-1694. https://doi.org/10.1007/s00415-014-7394-8
Leonardi, Luca ; Marcotulli, Christian ; McFarland, Karen N. ; Tessa, Alessandra ; DiFabio, Roberto ; Santorelli, Filippo M. ; Pierelli, Francesco ; Ashizawa, Tetsuo ; Casali, Carlo. / Spinocerebellar ataxia type 10 in Peru : the missing link in the Amerindian origin of the disease. In: Journal of Neurology. 2014 ; Vol. 261, No. 9. pp. 1691-1694.
@article{7a0ce59ab586466889eb6b6514ecf336,
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.",
keywords = "Epilepsy, SCA10, Spinocerebellar ataxia",
author = "Luca Leonardi and Christian Marcotulli and McFarland, {Karen N.} and Alessandra Tessa and Roberto DiFabio and Santorelli, {Filippo M.} and Francesco Pierelli and Tetsuo Ashizawa and Carlo Casali",
year = "2014",
doi = "10.1007/s00415-014-7394-8",
language = "English",
volume = "261",
pages = "1691--1694",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "9",

}

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

PY - 2014

Y1 - 2014

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

UR - http://www.scopus.com/inward/record.url?scp=84939893123&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84939893123&partnerID=8YFLogxK

U2 - 10.1007/s00415-014-7394-8

DO - 10.1007/s00415-014-7394-8

M3 - Article

C2 - 24935856

AN - SCOPUS:84939893123

VL - 261

SP - 1691

EP - 1694

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 9

ER -