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List of references:
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
S Winterthun, G Ferrari, L He, R W Taylor, M Zeviani, D M Turnbull, B A Engelsen, G Moen, L A Bindoff,
To investigate three families and one sporadic case with a recessively inherited ataxic syndrome.
Neurology - Apr 2005
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
M Mancuso, M Filosto, M Bellan, R Liguori, P Montagna, A Baruzzi, S DiMauro, V Carelli,
The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.
Neurology - Jan 2004
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
G Van Goethem, P Luoma, M Rantamäki, A Al Memar, S Kaakkola, P Hackman, R Krahe, A Löfgren, J J Martin, P De Jonghe, A Suomalainen, B Udd, C Van Broeckhoven,
To identify POLG mutations in patients with sensory ataxia and CNS features.
Neurology - Oct 2004
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls,
Neurology - Sep 2009