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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
- Source :
- Journal of neurology. 269(3)
- Publication Year :
- 2021
-
Abstract
- Introduction Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. Methods Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients with primary mitochondrial diseases (n = 764) where ataxia, myoclonus or other movement disorders were part of the clinical phenotype. Results Ataxia, myoclonus and movement disorders were present in 105/764 adults (13.7%), with the onset coinciding or preceding the diagnosis of the mitochondrial disease in 49/105 (46.7%). Ataxia and parkinsonism were the most represented, with an overall prevalence at last follow-up of 59.1% and 30.5%, respectively. Hyperkinetic movement disorders were reported in 15.3% at last follow-up, being the less common reported movement disorders. The pathogenic m.8344A > G and POLG variants were always associated with a movement disorder, while LHON variants and mtDNA single deletions were more commonly found in the subjects who did not present a movement disorder. The most common neuroimaging features were cortical and/or cerebellar atrophy, white matter hyperintensities, basal ganglia abnormalities and nigro-striatal degeneration. Almost 70% of patients with parkinsonism responded to dopaminergic therapy, mainly levodopa, and 50% with myoclonus were successfully treated with levetiracetam. Conclusion Movement disorders, mainly ataxia and parkinsonism, are important findings in adult primary mitochondrial diseases. This study underlies the importance of looking for a mitochondrial etiology in the diagnostic flowchart of a movement disorder and may help direct genetic screening in daily practice.
- Subjects :
- 0301 basic medicine
Myoclonus
medicine.medical_specialty
Pediatrics
Movement disorders
Ataxia
Neurology
Mitochondrial Diseases
Mitochondrial disease
Parkinsonism
03 medical and health sciences
0302 clinical medicine
Parkinsonian Disorders
Mitochondrial disorders
Humans
Phenotype
Movement Disorders
medicine
Movement disorder
business.industry
medicine.disease
Hyperintensity
Mitochondrial disorder
030104 developmental biology
Etiology
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14321459
- Volume :
- 269
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Journal of neurology
- Accession number :
- edsair.doi.dedup.....287728c829f0f13caf05274c81ca5bb9