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Familial adult myoclonus epilepsy: a pragmatic approach

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Abstract

Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. The disease is transmitted in an autosomal dominant manner and is characterized by the occurrence of cortical myoclonic tremor, overt myoclonus, and rare bilateral tonic–clonic seizures. FAME is considered neurodegenerative, although it is relatively slow in progression. Diagnosis is based on specific neurophysiological testing, namely jerk-locked back-averaging, somatosensory evoked potentials, long latency reflex, and motor evoked potentials, among others. Imaging data, including functional magnetic resonance imaging, indicate a cortical origin of the cortical myoclonic tremor and decreased cerebellar activation. Cerebellar changes in Purkinje cells have been noted, from few neuropathology reports, in patients from isolated pedigrees. The differential diagnosis includes essential tremor, some forms of genetic generalized epilepsy, and progressive myoclonus epilepsies. Treatment is mainly symptomatic.

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Authors and Affiliations

  1. Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Medical College P.O, Trivandrum, PIN-695011, Kerala, India

    Ajith Cherian, K. P. Divya & A. R. Swathy Krishnan

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  1. Ajith Cherian
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  2. K. P. Divya
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  3. A. R. Swathy Krishnan
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Correspondence to K. P. Divya.

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Cherian, A., Divya, K.P. & Krishnan, A.R.S. Familial adult myoclonus epilepsy: a pragmatic approach. Acta Neurol Belg 124, 389–394 (2024). https://doi.org/10.1007/s13760-023-02432-6

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