Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.
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.
Suppa
Antonio
A
Department of Neurological Sciences, Sapienza University of Rome, Rome, Italy.
Berardelli
Alfredo
A
Brancati
Francesco
F
Marianetti
Massimo
M
Barrano
Giuseppe
G
Mina
Concetta
C
Pizzuti
Antonio
A
Sideri
Giulio
G
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