Ataxia and Polyneuropathy, Adult-Onset Clinical CharacteristicsOcular Features: This condition has its onset in young adults. Early ocular signs are gaze-evoked horizontal nystagmus and defective ocular pursuit movements with the full range of extraocular movements. Some patients but not all have optic atrophy. Ptosis is not present. Systemic Features: Gait disturbances have their onset in the first or second decades of life. The gait may be broad-based. Intermittent hemiparesis with headache, nausea and vomiting has been reported in some individuals. Absent ankle jerks and extensor plantar responses have been noted but general muscle tone and strength is usually normal. An axonal sensorimotor neuropathy may be present in midlife as documented by nerve conduction studies. MRIs of the brain may reveal cerebellar atrophy. Mild cognitive problems have been reported in a few individuals. GeneticsThis is a mitochondrial disorder secondary to mutations in the mitochondrial MT-ATP6 gene. TreatmentTreatment Options: No treatment has been reported. ReferencesArticle Title: Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J Med Genet. 2007 Dec;44(12):797-9. PubMed ID: 18055910 Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation Rantamaki MT, Soini HK, Finnila SM, Majamaa K, Udd B. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol. 2005 Aug;58(2):337-40. PubMed ID: 16049925 Read more about Ataxia and Polyneuropathy, Adult-Onset
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J Med Genet. 2007 Dec;44(12):797-9. PubMed ID: 18055910
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation Rantamaki MT, Soini HK, Finnila SM, Majamaa K, Udd B. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol. 2005 Aug;58(2):337-40. PubMed ID: 16049925
