title: The neuropsychological features of mitochondrial myopathies and encephalomyopathies.
abstract: Detailed testing of higher cerebral function was performed in 36 patients with mitochondrial myopathies and encephalomyopathies. Fourteen of these patients were thought to be cognitively impaired on clinical grounds. The assessments included tests of general intellectual ability and focal tests of memory, language, and perception. Twenty-one (58%) of the 36 patients who were tested had evidence of general intellectual deterioration, with focal cognitive deficits of variable degree. Of the remaining 15 patients in whom there was no evidence of general intellectual decline, five displayed focal cognitive deficits. In only 10 patients was there evidence of cerebral dysfunction. The range and extent of cognitive deficits in mitochondrial myopathies are greater than predicted by their clinical presentations.
authors.affiliation: Department of Clinical Neuropsychology, National Hospitals for Neurology and Neurosurgery, London, United Kingdom.
authors.forename: L D
authors.initials: LD
authors.lastname: Kartsounis
authors.forename: D D
authors.initials: DD
authors.lastname: Troung
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000503:physiopathology / Q000523:psychology*; D003071:Cognition; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle; D009135:Muscular Diseases / Q000503:physiopathology / Q000523:psychology*; D009483:Neuropsychological Tests