Disease #00571
| Official abbreviation |
500010 |
| Name |
500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET |
| OMIM ID |
500010 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Individuals reported having this disease |
0 |
| Phenotype entries for this disease |
0 |
| Associated with 1 gene |
MT-ATP6 |
| Associated tissues |
- |
| Disease features |
Evidence that adult-onset ataxia and polyneuropathy can be caused by mutation in the MTATP6 gene (516060). |
| Remarks |
Molecular Genetics
In 4 sibs with adult-onset ataxia and polyneuropathy, Rantamaki et al. (2005) identified a heteroplasmic 8993T-C mutation in the MTATP6 gene (516060.0002).
In a mother, daughter, and granddaughter with slowly progressive adult-onset ataxia, Craig et al. (2007) identified the heteroplasmic 8993T-C mutation. The mutation was not identified in 191 additional patients with episodic ataxia, 307 patients with ataxia, or 96 patients with suspected Charcot-Marie-Tooth disease (see, e.g., CMT1A, 118220) suggesting that it is not a common finding in these phenotypic conditions. |
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