Familial Adult Myoclonic Epilepsy Recognition of Mild Phenotypes and Refinement of the 2q Locus
- Author(s)
- Crompton, DE; Sadleir, LG; Bromhead, CJ; Bahlo, M; Bellows, ST; Arsov, T; Harty, R; Lawrence, KM; Dunne, JW; Berkovic, SF; Scheffer, IE;
- Details
- Publication Year 2012-01-01,Volume 69,Issue #4,Page 474-481
- Journal Title
- ARCHIVES OF NEUROLOGY
- Publication Type
- Journal Article
- Abstract
- Background: Familial adult myoclonic epilepsy (FAME) is an autosomal dominant syndrome characterized by a core triad of cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures. Objectives: To expand the phenotypic spectrum of FAME, to highlight diagnostic pointers to this under-recognized disorder, and to refine the FAME2 genetic locus. Design: Observational family study. Setting: The study was coordinated in a tertiary academic hospital, with data acquired in diverse primary, secondary, and tertiary care settings. Participants: Consenting members of a single large family. Results: A 6-generation FAME kindred of European descent was ascertained in New Zealand and Australia. Affected family members (N = 55) had fine hand tremor, with onset typically in adolescence (median age, 15 years; age range, 4-60 years). Proximal myoclonus was present in 44 of 55 (80%), arising later than hand tremor (median age, 17 years; age range, 5-60 years). Generalized tonic-clonic seizures occurred in 8 of 55 (15%), with a median age at onset of 43.5 years (age range, 18-76 years). Neurophysiological testing confirmed features of cortical reflex myoclonus. Genetic mapping narrows the FAME2 (OMIM 607876) locus on chromosome 2 to a 13.3-megabase interval, harboring 99 known protein-coding genes. Conclusions: The most common FAME phenotype in this large family is mild postural hand tremor resembling essential tremor, combined with subtle proximal myoclonus. Generalized tonic-clonic seizures are uncommon and occur around sleep onset following severe generalized myoclonus.
- Publisher
- AMER MEDICAL ASSOC
- Keywords
- CORTICAL TREMOR; CHROMOSOME 8Q23.3-Q24.1; 3RD LOCUS; LINKAGE; 2P11.1-Q12.2; PEDIGREE; BAFME; GENE; MAPS; LOCALIZATION
- Research Division(s)
- Bioinformatics
- Publisher's Version
- https://doi.org/10.1001/archneurol.201
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Creation Date: 2012-01-01 12:00:00