| Title |
Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease
|
|---|---|
| Published in |
Journal of Neurology, June 2014
|
| DOI | 10.1007/s00415-014-7394-8 |
| Pubmed ID | |
| Authors |
Luca Leonardi, Christian Marcotulli, Karen N. McFarland, Alessandra Tessa, Roberto DiFabio, Filippo M. Santorelli, Francesco Pierelli, Tetsuo Ashizawa, Carlo Casali |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ethiopia | 1 | 4% |
| Unknown | 23 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 17% |
| Student > Bachelor | 3 | 13% |
| Student > Doctoral Student | 2 | 8% |
| Student > Ph. D. Student | 2 | 8% |
| Student > Master | 2 | 8% |
| Other | 3 | 13% |
| Unknown | 8 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 21% |
| Neuroscience | 4 | 17% |
| Agricultural and Biological Sciences | 2 | 8% |
| Psychology | 2 | 8% |
| Computer Science | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 9 | 38% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 June 2014.
All research outputs
#20,265,771
of 22,796,179 outputs
Outputs from Journal of Neurology
#3,982
of 4,475 outputs
Outputs of similar age
#192,592
of 228,240 outputs
Outputs of similar age from Journal of Neurology
#28
of 38 outputs
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