| Title |
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
|
|---|---|
| Published in |
Journal of Neurology, October 2012
|
| DOI | 10.1007/s00415-012-6723-z |
| Pubmed ID | |
| Authors |
S. T. de Bot, J. H. Veldink, S. Vermeer, A. R. Mensenkamp, F. Brugman, H. Scheffer, L. H. van den Berg, H. P. H. Kremer, E. J. Kamsteeg, B. P. van de Warrenburg |
| Abstract |
SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 4% |
| Unknown | 26 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 30% |
| Student > Ph. D. Student | 3 | 11% |
| Student > Master | 3 | 11% |
| Student > Bachelor | 2 | 7% |
| Student > Postgraduate | 2 | 7% |
| Other | 6 | 22% |
| Unknown | 3 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 26% |
| Agricultural and Biological Sciences | 7 | 26% |
| Medicine and Dentistry | 6 | 22% |
| Neuroscience | 3 | 11% |
| Social Sciences | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 3 | 11% |
Attention Score in Context
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#20,171,868
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Outputs from Journal of Neurology
#3,959
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#163,426
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Outputs of similar age from Journal of Neurology
#44
of 48 outputs
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