In:
Epilepsia, Wiley, Vol. 54, No. 7 ( 2013-07), p. 1298-1306
Abstract:
We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy ( FCMTE ). Methods Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back‐averaging analysis and somatosensory evoked potentials with C ‐reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q ( FCMTE 1), 2p ( FCMTE 2), and 5p ( FCMTE 3). Key Findings The pedigree included 25 affected members (M/F: 9/16). We studied 16 of the 19 living affected members (M/F: 5/11; mean age 47.8 years). Cortical myoclonic tremor ( CMT ) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT , with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz were recorded in all 11 affected members tested. Additional neurophysiologic investigations disclosed a cortical origin of myoclonus in all patients tested. Generalized epileptiform discharges were recorded in 25% of cases, and a photoparoxysmal response in 31%. Genetic analysis established linkage to the FCMTE 2 locus on chromosome 2p11.1‐2q12.2 ( OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area. Significance This study confirms evidence of a founder effect in I talian families and reduces the number of positional candidate genes in the FCMTE 2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.
Type of Medium:
Online Resource
ISSN:
0013-9580
,
1528-1167
DOI:
10.1111/epi.2013.54.issue-7
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2002194-X
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