Abstract | IMPORTANCE: OBJECTIVE: DESIGN, SETTING, AND PARTICIPANTS: MAIN OUTCOMES AND MEASURES: We investigated the prevalence and genetic causes of dystonia and parkinsonism as well as radiological findings in the context of movement disorders in mitochondrial disease. All patients were interviewed and examined. All available medical notes and clinical, radiological, and genetic investigations were reviewed. RESULTS: Forty-two patients (mean [SD] age, 37 [25] years; 38% female) with mitochondrial disease (12 pediatric [age range, 4-14 years], 30 adult [age range, 20-81 years]) with extrapyramidal movement disorders were identified. Dystonia manifested in 11 pediatric patients (92%), often in the context of Leigh syndrome; parkinsonism predominated in 13 adult patients (43%), among whom 5 (38%) harbored either dominant (n = 1) or recessive (n = 4) mutations in POLG. Eleven adult patients (37%) manifested with either generalized or multifocal dystonia related to mutations in mitochondrial DNA, among which the most common were the m.11778G>A mutation and mutations in MT-ATP6 (3 of 11 patients [27%] each). Bilateral basal ganglia lesions were the most common finding in brain magnetic resonance imaging, usually associated with generalized dystonia or Leigh syndrome. CONCLUSIONS AND RELEVANCE:
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Authors | Mika H Martikainen, Yi Shiau Ng, Gráinne S Gorman, Charlotte L Alston, Emma L Blakely, Andrew M Schaefer, Patrick F Chinnery, David J Burn, Robert W Taylor, Robert McFarland, Doug M Turnbull |
Journal | JAMA neurology
(JAMA Neurol)
Vol. 73
Issue 6
Pg. 668-74
(06 01 2016)
ISSN: 2168-6157 [Electronic] United States |
PMID | 27111573
(Publication Type: Journal Article)
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Chemical References |
- DNA, Mitochondrial
- MT-ATP6 protein, human
- DNA Polymerase gamma
- DNA-Directed DNA Polymerase
- POLG protein, human
- Mitochondrial Proton-Translocating ATPases
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Topics |
- Adolescent
- Adult
- Age Factors
- Aged
- Aged, 80 and over
- Basal Ganglia Diseases
(diagnostic imaging, etiology, genetics, therapy)
- Child
- Child, Preschool
- Cohort Studies
- DNA Polymerase gamma
- DNA, Mitochondrial
(genetics)
- DNA-Directed DNA Polymerase
(genetics)
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mitochondrial Diseases
(complications, diagnostic imaging, genetics)
- Mitochondrial Proton-Translocating ATPases
(genetics)
- Mutation
(genetics)
- Young Adult
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