Objective: Characterized a case with A3243G mutation in mtDNA tRNALeu, a variant of mitochondrial disease; MELAS, which presents with atypical parkinsonism as Multiple system atrophy.

Background: Multiple system atrophy (MSA) is a rapidly progressive, fatal neurodegenerative disease of uncertain etiology that belongs to the family of α-synucleinopathies. It clinically presents with parkinsonism, cerebellar, autonomic, and motor impairment in variable combinations.
MSA associated with mitochondrial disease is rare and few cases have been described in the literature.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a devastating mitochondrial syndrome, characterized by seizures, lactic acidosis, and stroke-like episodes. MELAS associated with parkinsonism was observed in a few patients. Clinical features vary from atypical hemiparkinsonism to a Parkinson’s disease-like phenotype.

Method: We present a case of a 77-year-old woman who was referred to our clinic with a history of stroke episodes, resting tremor, clumsiness, and slowness to perform daily life activities and has no family history of movement disorders, but several members have been affected by diabetes, hypoacusis, myopathy, or neuropathy with a maternal inheritance pattern. She presented progressive bilateral hypoacusis, Diabetes Mellitus, and arterial hypertension. On Clinical Examination it was found: bradykinesia, rigidity, tremor at rest, postural instability, freezing of gait, moderate stridor, urinary incontinence, REM sleep behavior disorder, orthostatic hypotension, and normal cognition. L-dopa had been prescribed, but she responded poorly.Cranial MRI and CT scan showed Vascular injury and cortical atrophy, EMG showed peripheral sensitive motor neuropathy, serum copper, ceruloplasmin, 24 h urine copper was normal.

Results: We identified a m.A3243G in mtDNA tRNALeu genetic variant in a case with clinically diagnosed MSA in a patient with a family history of mitochondrial disease.

Conclusion: We assume that patients with a mitochondrial disorder might be prone to develop Atypical Parkinsonism as MELAS. Our data suggest that genetic variants in mtDNA tRNALeu (UUR) gene can present clinically as MSA.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/multiple-system-atrophy-mimicked-by-mitochondrial-disease/