||500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET|
|Human Phenotype Ontology Project (HPO)
|Individuals reported having this disease
|Phenotype entries for this disease
|Associated with 1 gene
||Evidence that adult-onset ataxia and polyneuropathy can be caused by mutation in the MTATP6 gene (516060).|
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.