| Title |
Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion
|
|---|---|
| Published in |
Journal of Neurology, February 2012
|
| DOI | 10.1007/s00415-012-6430-9 |
| Pubmed ID | |
| Authors |
G. Koutsis, G. Karadima, A. Pandraud, M. G. Sweeney, R. Paudel, H. Houlden, N. W. Wood, M. Panas |
| Abstract |
Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 38 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 21% |
| Student > Master | 7 | 18% |
| Student > Ph. D. Student | 6 | 16% |
| Student > Doctoral Student | 3 | 8% |
| Student > Postgraduate | 3 | 8% |
| Other | 6 | 16% |
| Unknown | 5 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 32% |
| Neuroscience | 5 | 13% |
| Agricultural and Biological Sciences | 4 | 11% |
| Psychology | 3 | 8% |
| Biochemistry, Genetics and Molecular Biology | 2 | 5% |
| Other | 3 | 8% |
| Unknown | 9 | 24% |
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 05 February 2012.
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#18,304,230
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#3,614
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Outputs of similar age from Journal of Neurology
#31
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