title: Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.
abstract: We studied the clinical, neuropsychological, neurophysiologic, and genetic features of an Italian family with familial cortical myoclonic tremor with epilepsy (FCMTE). Clinically affected members of the family had limb and voice tremor, seizures, and myoclonus involving the eyelids during blinking. Neuropsychological testing disclosed visuospatial impairment, possibly due to temporal lobe dysfunction. Neurophysiologic findings suggested increased primary motor cortex excitability with normal sensorimotor integration. Linkage analysis excluded the 8q24 locus, where patients shared a common haplotype spanning 14.5 Mb in the pericentromeric region of chromosome 2.
authors.affiliation: Department of Neurological Sciences, Sapienza University of Rome, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Suppa
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Massimo
authors.initials: M
authors.lastname: Marianetti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Barrano
authors.forename: Concetta
authors.initials: C
authors.lastname: Mina
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Giulio
authors.initials: G
authors.lastname: Sideri
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000235:genetics / Q000523:psychology; D019054:Evoked Potentials, Motor / Q000502:physiology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009483:Neuropsychological Tests; D010375:Pedigree; D050781:Transcranial Magnetic Stimulation / Q000379:methods; D014202:Tremor / Q000150:complications / Q000235:genetics / Q000523:psychology