title: Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.
abstract: We report a five-generation family showing cortical tremor, myoclonus, and epilepsy, originating from Naples, Italy. Eleven members, aged 24-56 years (mean: 39.2 years), suffered from hand tremor and myoclonus, whereas generalized seizures occurred in six. Electrophysiological study confirmed the presence of cortical reflex myoclonus in all affected members. In addition, giant somatosensory-evoked potential components and enhanced long loop reflex I were found also in three presymptomatic members who manifested hand tremor and myoclonus at upper limbs after 1.5 years of follow-up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition.
authors.affiliation: Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy. sstriano@libero.it
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D015897:Comorbidity; D004569:Electroencephalography / Q000706:statistics & numerical data; D004594:Electrophysiology / Q000706:statistics & numerical data; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D020329:Essential Tremor / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D005073:Evoked Potentials, Somatosensory; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007558:Italy / Q000208:ethnology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D044465:White People / Q000235:genetics*
chemical_list: D005819:Genetic Markers