Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and W748S mutations, one suffering from choreoathetosis and apraxia of lid opening due to focal eyelid dystonia that mimicked progression of ptosis, resulting in functional blindness. So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted.
Paus
Sebastian
S
Department of Neurology, University of Bonn, Bonn, Germany. spaus@uni-bonn.de
Zsurka
Gabor
G
Baron
Miriam
M
Deschauer
Marcus
M
Bamberg
Christian
C
Klockgether
Thomas
T
Kunz
Wolfram S
WS
Kornblum
Cornelia
C
D000328:Adult; D001072:Apraxias / Q000150:complications* / Q000235:genetics*; D001763:Blepharoptosis / Q000209:etiology*; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000235:genetics; D012694:Serine / Q000235:genetics; D035781:Siblings; D014364:Tryptophan / Q000235:genetics
D012694:Serine; D014364:Tryptophan; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human