title: Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation.
abstract: Autonomic nervous system involvement in female patients with classic Rett syndrome usually manifests as breathing abnormalities, peripheral vasomotor disturbances, and cardiac sympathetic imbalance, the latter a possible cause of sudden death. MECP2 gene mutations responsible for Rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities. However, autonomic nervous system functions have never been investigated in male patients with X-linked mental retardation owing to MECP2 mutations. We studied heart rate variability, a marker of autonomic activity, in a family with the MECP2 mutation in male patients, one of whom had died suddenly. Cardiovascular features similar to those observed in a Rett syndrome variant with preserved speech were found, suggesting sympathetic imbalance.
authors.affiliation: Department of Neurological and Behavioral Sciences, Policlinico Le Scotte, Viale Bracci 2, 53100 Siena, Italy. dotti@unisi.it
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Francesca
authors.initials: F
authors.lastname: Guideri
authors.forename: Maurizio
authors.initials: M
authors.lastname: Acampa
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
authors.forename: Carla
authors.initials: C
authors.lastname: Battisti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001341:Autonomic Nervous System / Q000503:physiopathology*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006339:Heart Rate / Q000502:physiology*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins