| Title |
Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report
|
|---|---|
| Published in |
BMC Neurology, August 2012
|
| DOI | 10.1186/1471-2377-12-73 |
| Pubmed ID | |
| Authors |
Troels Tolstrup Nielsen, Skirmante Mardosiene, Annemette Løkkegaard, Jette Stokholm, Susanne Ehrenfels, Sara Bech, Lars Friberg, Jens Kellberg Nielsen, Jørgen E Nielsen |
| Abstract |
The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes. The diagnosing of the SCAs is often difficult due to the phenotypic overlap among several of the subtypes and with other neurodegenerative disorders e.g. Huntington's disease. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Egypt | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 3% |
| Spain | 1 | 3% |
| Unknown | 37 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 21% |
| Student > Ph. D. Student | 7 | 18% |
| Student > Master | 5 | 13% |
| Student > Bachelor | 4 | 10% |
| Student > Doctoral Student | 2 | 5% |
| Other | 4 | 10% |
| Unknown | 9 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 9 | 23% |
| Medicine and Dentistry | 7 | 18% |
| Biochemistry, Genetics and Molecular Biology | 5 | 13% |
| Agricultural and Biological Sciences | 4 | 10% |
| Nursing and Health Professions | 2 | 5% |
| Other | 2 | 5% |
| Unknown | 10 | 26% |
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 14 August 2012.
All research outputs
#15,248,503
of 22,673,450 outputs
Outputs from BMC Neurology
#1,474
of 2,416 outputs
Outputs of similar age
#106,600
of 167,391 outputs
Outputs of similar age from BMC Neurology
#38
of 61 outputs
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