Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.
We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polymerase gamma (POLG), adenine nucleotide translocase (ANT-1) or C10orf2 (Twinkle). She presented with prominent Parkinsonism characterized by prolonged benefit from levodopa (L-dopa) and the later development of L-dopa induced dyskinesias and motor fluctuations. Thus L-dopa responsiveness, L-dopa induced dyskinesias and motor fluctuations may also occur in atypical Parkinsonism of mitochondrial disease, just as they may in multiple system atrophy.
Wilcox
Robert A
RA
Department of Neurology, Flinders Medical Centre, SA, Australia. robert_wilcox@health.qld.gov.au
Churchyard
Andrew
A
Dahl
Henrik H
HH
Hutchison
Wendy M
WM
Kirby
Denise M
DM
Thyagarajan
Dominic
D
D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000648:ultrastructure; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D010300:Parkinson Disease / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D010597:Pharmacogenetics
D000978:Antiparkinson Agents; D004272:DNA, Mitochondrial; D007980:Levodopa