Abstract
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review
Highlights
Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) has over the years accumulated several names and acronyms including autosomal dominant cortical myoclonus and epilepsy (ADCME), benign adult familial myoclonic epilepsy (BAFME), cortical tremor (Crt Tr), familial adult myoclonic epilepsy (FAME), familial cortical myoclonic tremor (FCMT), familial cortical tremor with epilepsy (FCTE), familial essential myoclonus and epilepsy (FEME), familial benign myoclonus epilepsy of adult onset (FMEA), and heredofamilial tremor and epilepsy (HTE) (Table 1).[1]
The current review aims to summarize studies into FCMTE, and be of guidance to the clinician encountering a patient with suspected FCMTE
The search conducted for our previous review in 2011 had already revealed a total of 44 publications published before 2011,1 which are included in the current review (Tables 2 and 3)
Summary
Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) has over the years accumulated several names and acronyms including autosomal dominant cortical myoclonus and epilepsy (ADCME), benign adult familial myoclonic epilepsy (BAFME), cortical tremor (Crt Tr), familial adult myoclonic epilepsy (FAME), familial cortical myoclonic tremor (FCMT), familial cortical tremor with epilepsy (FCTE), familial essential myoclonus and epilepsy (FEME), familial benign myoclonus epilepsy of adult onset (FMEA), and heredofamilial tremor and epilepsy (HTE) (Table 1).[1]. Symptoms of FCMTE are tremor-like cortical myoclonus, which can mimic essential tremor (ET), and epileptic seizures. Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria. A ‘‘benign’’ phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes
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