Title

Mitochondrial DNA Mutations and Cognition: A Case-Series Report

Publication Date

2014

Journal Title

Arch Clin Neuropsychol

Abstract

Mutations in the mitochondrial genome can impair normal metabolic function in the central nervous system (CNS) where cellular energy demand is high. Primary mitochondrial DNA (mtDNA) mutations have been linked to several mitochondrial disorders that have comorbid psychiatric, neurologic, and cognitive sequelae. Here, we present a series of cases with primary mtDNA mutations who were genotyped and evaluated across a common neuropsychological battery. Nineteen patients with mtDNA mutations were genotyped and clinically and cognitively evaluated. Pronounced deficits in nonverbal/visuoperceptual reasoning, verbal recall, semantic word generativity, and processing speed were evident and consistent with a "mitochondrial dementia" that has been posited. However, variation in cognitive performance was noteworthy, suggesting that the phenotypic landscape of cognition linked to primary mtDNA mutations is heterogeneous. Our patients with mtDNA mutations evidenced cognitive deficits quite similar to those commonly seen in Alzheimer's disease and could have clinical relevance to the evaluation of dementia.

Volume Number

29

Issue Number

4

Pages

315-321

Document Type

Article

Status

Faculty; Northwell Researcher

Facility

School of Medicine; Northwell Health

Primary Department

Psychiatry

PMID

24777554

DOI

10.1093/arclin/acu016