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Familial adult myoclonic epilepsy: A new expansion repeats disorder
Ilaria Lagorio1, Federico Zara2, Salvatore Striano3
1Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, IRCCS "G. Gaslini" Institute, Genova, Italy.
Abstract:
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. Prevalence is unknown since this condition is often under-recognized, but it is estimated to be less than 1/35,000. The disease usually starts in the second decade of life and has been genetically associated with at least 4 different loci (8q24, 2p11.1-q12.2, 5p15.31-p15 and 3q26.32-3q28). Recently, the expansion of non coding TTTTA and TTTCA repeats has been identified as the causative mutation in Japanese families linked to the 8q24. The diagnosis is supported by clinical features and electrophysiological investigations as jerk-locked back averaging, C-reflex, and somatosensory-evoked potential. Photic stimulation, emotional stress, and sleep deprivation may trigger both tonic-clonic and myoclonic seizures. FAME has a slow but progressive clinical course occurring with intellectual disability and worsening of both tremor and myoclonus although with a less severe decline compared to other progressive myoclonic epilepsies. Valproate, levetiracetam, and benzodiazepines are considered the first-line treatments.
Insights
Familial adult myoclonic epilepsy (FAME) is an inherited neurological disorder characterized by tremors and myoclonic jerks. Genetic analysis revealed repeat expansions as a key cause in some families.
Area of Science:
- Neurology
- Genetics
- Epilepsy
Background:
- Familial adult myoclonic epilepsy (FAME) is an autosomal dominant disorder.
- It presents with cortical hand tremors, myoclonic jerks, and occasional seizures, often starting in the second decade of life.
- Prevalence is underestimated due to under-recognition.
Purpose of the Study:
- To summarize the clinical and genetic features of Familial Adult Myoclonic Epilepsy (FAME).
- To highlight diagnostic methods and treatment options for FAME.
Main Methods:
- Review of clinical and genetic studies on FAME.
- Electrophysiological investigations including jerk-locked back averaging, C-reflex, and somatosensory-evoked potentials.
- Genetic analysis identifying repeat expansions in specific loci.
Main Results:
- FAME is linked to at least four genetic loci, with repeat expansions (TTTTA and TTTCA) identified as a cause in Japanese families at 8q24.
- Clinical presentation includes tremors and myoclonus, with seizures triggered by photic stimulation, stress, or sleep deprivation.
- The condition has a progressive course with intellectual disability, but a slower decline than other progressive myoclonic epilepsies.
Conclusions:
- Genetic repeat expansions are a significant cause of FAME.
- Early diagnosis and management with medications like valproate, levetiracetam, and benzodiazepines are crucial.
- Further research is needed to understand the full spectrum and prevalence of FAME.
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