title: Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).
abstract: A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral blood flow in the frontal and temporal regions associated with cognitive impairment. The objective was to investigate further cognitive and behavioural aspects in a new series of patients with DM-1 and PROMM/DM-2. Nineteen patients with genetically determined PROMM/DM-2 and 21 patients with moderately severe DM-1 underwent neuropsychological testing and neuropsychiatric interviews. DM-1 and PROMM/DM-2 patients had significantly lower scores on tests of frontal lobe function compared to controls. Neuropsychiatric interviews demonstrated an avoidant trait personality disorder in both patient groups. Brain single photon emission computed tomography showed frontal and parieto-occipital hypoperfusion. The results suggest that there is a specific cognitive and behavioural profile in PROMM/DM-2 and in DM-1, and that this profile is associated with hypoperfusion in frontal and parieto-occipital regions of the brain.
authors.affiliation: Department of Neurology, University of Milan, San Donato Hospital, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy. giovanni.meola@unimi.it
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: V
authors.initials: V
authors.lastname: Sansone
authors.forename: D
authors.initials: D
authors.lastname: Perani
authors.forename: S
authors.initials: S
authors.lastname: Scarone
authors.forename: S
authors.initials: S
authors.lastname: Cappa
authors.forename: C
authors.initials: C
authors.lastname: Dragoni
authors.forename: E
authors.initials: E
authors.lastname: Cattaneo
authors.forename: M
authors.initials: M
authors.lastname: Cotelli
authors.forename: C
authors.initials: C
authors.lastname: Gobbo
authors.forename: F
authors.initials: F
authors.lastname: Fazio
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: E
authors.initials: E
authors.lastname: Vitelli
authors.forename: S
authors.initials: S
authors.lastname: Zhang
authors.forename: R
authors.initials: R
authors.lastname: Krahe
authors.forename: R T
authors.initials: RT
authors.lastname: Moxley
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D002560:Cerebrovascular Circulation / Q000502:physiology; D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020967:Myotonic Disorders / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology*; D009223:Myotonic Dystrophy / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology*; D009483:Neuropsychological Tests; D009778:Occipital Lobe / Q000000981:diagnostic imaging / Q000503:physiopathology; D010296:Parietal Lobe / Q000000981:diagnostic imaging / Q000503:physiopathology; D010554:Personality Disorders / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D015899:Tomography, Emission-Computed, Single-Photon