title: Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.
abstract: Mitochondrial encephalomyopathies (ME) are a multisystemic group of diseases characterized by a wide range of biochemical and genetic mitochondrial defects with a variable mode of inheritance. We studied the neuropsychological profile, magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT) data in a group of ME patients in order to look for common or specific cognitive defects and a possible correlation with related brain areas. Three main cognitive areas were assessed: general intelligence, memory functions and visuo-perceptual skills. Our sample included 16 ME patients (nine males, seven females) aged 25-68 years (mean age 45.2, SD 13.0). No sign of mental deterioration was found in the group of elderly subjects. Despite subjects showing no global cognitive impairment they scored lower in nonverbal versus verbal tasks. Visuo-spatial skills and short-term memory were selectively impaired. There was no correlation between neuropsychological results and age, illness duration, age of onset, clinical phenotypes, genetic mitochondrial alterations and pharmacological therapy. The most frequent SPECT pattern observed was the hypoperfusion of temporal lobes, with a direct localization in the temporal cortex and with prevalent mesial involvement. The neuropsychological profile and SPECT imaging revealed similarities with focal defects.
authors.affiliation: IRCCS 'Eugenio Medea', 23842 Bosisio Parini, Lecco, Italy. turconi@bp.lnf.it
authors.forename: A C
authors.initials: AC
authors.lastname: Turconi
authors.forename: R
authors.initials: R
authors.lastname: Benti
authors.forename: E
authors.initials: E
authors.lastname: Castelli
authors.forename: S
authors.initials: S
authors.lastname: Pochintesta
authors.forename: G
authors.initials: G
authors.lastname: Felisari
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: C
authors.initials: C
authors.lastname: Gagliardi
authors.forename: L
authors.initials: L
authors.lastname: Del Piccolo
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D000328:Adult; D000368:Aged; D003072:Cognition Disorders / Q000209:etiology*; D005260:Female; D006801:Humans; D007360:Intelligence; D008279:Magnetic Resonance Imaging; D008297:Male; D008568:Memory; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000523:psychology*; D009483:Neuropsychological Tests; D011597:Psychomotor Performance; D015899:Tomography, Emission-Computed, Single-Photon; D014888:Wechsler Scales