You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
Mendeley readers
| Title |
Pseudodominant AOA2
|
|---|---|
| Published in |
Cerebellum & Ataxias, April 2015
|
| DOI | 10.1186/s40673-015-0024-0 |
| Pubmed ID | |
| Authors |
Laurence Newrick, Malcolm Taylor, Marios Hadjivassiliou |
| Abstract |
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the unusual coincidence of both mother and daughter being compound heterozygotes for senataxin mutations. Our case exemplifies the challenges of diagnosis in hereditary ataxias, and the limitations of genetic testing guided solely by patterns of inheritance. |
Mendeley readers
The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 9 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 22% |
| Researcher | 2 | 22% |
| Student > Ph. D. Student | 1 | 11% |
| Student > Bachelor | 1 | 11% |
| Student > Master | 1 | 11% |
| Other | 1 | 11% |
| Unknown | 1 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 44% |
| Linguistics | 1 | 11% |
| Biochemistry, Genetics and Molecular Biology | 1 | 11% |
| Unknown | 3 | 33% |