Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.
Clinical expression of POLG mutations is largely variable. We present a patient with a new mutation in spacer region of mitochondrial polymerase gamma protein (P765T). The clinical picture is characterized by the presence of sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis, which had not been previously observed in ataxia neuropathy spectrum.
Department of Neurology, CHU Brugmann, Universite Libre de Bruxelles, Brussels, Belgium. abostan@ulb.ac.be
Alionka
A
Bostan
Gerald
G
Glibert
Bernard
B
Dachy
Bernard
B
Dan
D001259:Ataxia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D004401:Dysarthria / Q000150:complications / Q000235:genetics*; D005260:Female; D018589:Gastroparesis / Q000150:complications / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D025261:Mitochondrial Proton-Translocating ATPases / Q000172:deficiency / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics; D011115:Polyneuropathies / Q000150:complications / Q000235:genetics* / Q000473:pathology
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D025261:Mitochondrial Proton-Translocating ATPases