| Title |
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
|
|---|---|
| Published in |
neurogenetics, September 2006
|
| DOI | 10.1007/s10048-006-0062-0 |
| Pubmed ID | |
| Authors |
Nicole I. Wolf, Maria Cundall, Paul Rutland, Elisabeth Rosser, Robert Surtees, Sarah Benton, Wui K. Chong, Sue Malcolm, Friedrich Ebinger, Maria Bitner-Glindzicz, Karen J. Woodward |
| Abstract |
Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neuropathy. Magnetic resonance imaging (MRI) of both children showed progressive demyelination in addition to dysmyelination, and also characteristic brainstem abnormalities. In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive. |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Slovenia | 1 | 6% |
| Unknown | 16 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 18% |
| Other | 2 | 12% |
| Student > Doctoral Student | 2 | 12% |
| Student > Ph. D. Student | 2 | 12% |
| Student > Master | 2 | 12% |
| Other | 5 | 29% |
| Unknown | 1 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 41% |
| Agricultural and Biological Sciences | 6 | 35% |
| Linguistics | 1 | 6% |
| Neuroscience | 1 | 6% |
| Social Sciences | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 1 | 6% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 July 2018.
All research outputs
#4,696,781
of 22,790,780 outputs
Outputs from neurogenetics
#61
of 376 outputs
Outputs of similar age
#12,131
of 67,066 outputs
Outputs of similar age from neurogenetics
#3
of 6 outputs
Altmetric has tracked 22,790,780 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 376 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 79% of its peers.
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We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.