FAME 3: A novel form of progressive myoclonus and epilepsy

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dc.contributor.authorCarr J.A.
dc.contributor.authorVan Der Walt P.E.
dc.contributor.authorNakayama J.
dc.contributor.authorFu Y.-H.
dc.contributor.authorCorfield V.
dc.contributor.authorBrink P.
dc.contributor.authorPtacek L.
dc.date.accessioned2011-05-15T16:17:29Z
dc.date.available2011-05-15T16:17:29Z
dc.date.issued2007
dc.description.abstractBACKGROUND: Familial adult myoclonic epilepsy (FAME) is associated with myoclonus, tremor, and rare seizures, and is a nonprogressive disorder linked to the FAME 1 locus. A similar disorder has been linked to the FAME 2 locus. METHODS: Seventeen patients from two families with myoclonus and epilepsy were evaluated clinically and underwent EEG, EMG, jerk-locked averaging, and MRI scanning. Three had responses to magnetic stimulation assessed. Linkage was assessed for microsatellite markers across the FAME 1 and 2 loci. RESULTS: The median age at onset was 20 years, with many patients having frequent seizures, cognitive impairment, and cerebellar dysfunction. Electrophysiologic features of cortical myoclonus were typically present, but photosensitivity was uncommon. MRI frequently demonstrated cerebellar atrophy. Pathology of a single case showed Purkinje cell loss, dentate atrophy, and neuronal loss and gliosis in the olives and pallidum. Analysis of genotypes for markers at the FAME 1 and FAME 2 loci excluded these as the region containing the same locus in one family, but only the FAME 2 locus was excluded in the other family. CONCLUSIONS: This form of familial adult myoclonic epilepsy does not show linkage to either of the known familial adult myoclonic epilepsy loci, and is characterized in some members by frequent seizures, cerebellar ataxia, dementia, and progression of the disease. This may represent a new form of progressive myoclonus and epilepsy, which we have termed familial adult myoclonic epilepsy type 3. ©2007AAN Enterprises, Inc.
dc.description.versionArticle
dc.identifier.citationNeurology
dc.identifier.citation68
dc.identifier.citation17
dc.identifier.issn00283878
dc.identifier.other10.1212/01.wnl.0000260063.46425.7e
dc.identifier.urihttp://hdl.handle.net/10019.1/14239
dc.subjectadolescent
dc.subjectadult
dc.subjectage distribution
dc.subjectarticle
dc.subjectcerebellar ataxia
dc.subjectcerebellum
dc.subjectcerebellum atrophy
dc.subjectcerebellum disease
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectdementia
dc.subjectdentate nucleus
dc.subjectdisease association
dc.subjectdisease course
dc.subjectdisease severity
dc.subjectelectroencephalogram
dc.subjectelectromyogram
dc.subjectepilepsy
dc.subjectfamilial adult myoclonic epilepsy
dc.subjectfamilial adult myoclonic epilepsy 1 gene
dc.subjectfamilial adult myoclonic epilepsy 2 gene
dc.subjectfamilial adult myoclonic epilepsy 3 gene
dc.subjectfemale
dc.subjectgene
dc.subjectgene locus
dc.subjectgenetic association
dc.subjectgenetic linkage
dc.subjectgenotype
dc.subjectgliosis
dc.subjectglobus pallidus
dc.subjecthuman
dc.subjectmagnetic stimulation
dc.subjectmale
dc.subjectmarker gene
dc.subjectmicrosatellite marker
dc.subjectmyoclonus
dc.subjectnuclear magnetic resonance imaging
dc.subjectolivary nucleus
dc.subjectphotosensitivity
dc.subjectpriority journal
dc.subjectPurkinje cell
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAge of Onset
dc.subjectAtrophy
dc.subjectBrain
dc.subjectCerebellar Ataxia
dc.subjectCognition Disorders
dc.subjectDisease Progression
dc.subjectDysarthria
dc.subjectElectroencephalography
dc.subjectElectromyography
dc.subjectEpilepsies, Myoclonic
dc.subjectEpilepsy, Tonic-Clonic
dc.subjectEvoked Potentials
dc.subjectFemale
dc.subjectGenes, Dominant
dc.subjectGliosis
dc.subjectHumans
dc.subjectLinkage (Genetics)
dc.subjectLod Score
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectMicrosatellite Repeats
dc.subjectNystagmus, Pathologic
dc.subjectPedigree
dc.subjectPurkinje Cells
dc.subjectSouth Africa
dc.subjectTranscranial Magnetic Stimulation
dc.titleFAME 3: A novel form of progressive myoclonus and epilepsy
dc.typeArticle
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