Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Identifieur interne : 001659 ( PascalFrancis/Curation ); précédent : 001658; suivant : 001660Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
Auteurs : Robert A. Wilcox [Australie] ; Andrew Churchyard [Australie] ; Henrik H. Dahl [Australie] ; Wendy M. Hutchison [Australie] ; Denise M. Kirby [Australie] ; Dominic Thyagarajan [Australie]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
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 (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.
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chronic</term>
<term>Deletion</term>
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<term>Mitochondrial disorder</term>
<term>Nervous system diseases</term>
<term>Neuropathy</term>
<term>Ophthalmoplegia</term>
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<term>Parkinsonisme</term>
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<front><div type="abstract" xml:lang="en">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 (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.</div>
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