POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

ABSTRACT:

Objective

Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome.

Methods

Clinical, neurophysiological, and neuroradiological evaluations were conducted. Patient muscle and cultured fibroblasts underwent extensive analyses to assess mitochondrial function. Genetic studies including genome-wide sequencing were co

SUBMITTER: Van Maldergem L 

PROVIDER: S-EPMC5221457 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature