Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
Arch Neurol
; 69(4): 474-81, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22491192
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 underrecognized 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Saúde da Família
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Epilepsias Mioclônicas
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Reconhecimento Psicológico
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Ligação Genética
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Transtornos da Memória
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article