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Autosomal dominant cortical tremor, myoclonus, and epilepsy ( ADCME ) in a unique south Indian community
Author(s) -
Mahadevan Radha,
Viswanathan Natarajan,
Shanmugam Ganesan,
Sankaralingam Saravanan,
Essaki Bobby,
Chelladurai Rachel P.
Publication year - 2016
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.13303
Subject(s) - myoclonus , epilepsy , pediatrics , medicine , progressive myoclonus epilepsy , psychology , neuroscience
Summary Autosomal dominant cortical tremor, myoclonus, and epilepsy ( ADCME )/familial adult onset myoclonic epilepsy ( FAME ) is a nonprogressive disorder characterized by (1) distal tremors that are usually precipitated by posture and action; (2) stimulus‐sensitive myoclonus that is predominantly seen in the upper limb and is precipitated by photic stimuli, fatigue, emotional stress, and sleep deprivation; (3) seizures that were predominantly of the generalized tonic–clonic type that showed significant response to antiepileptic drugs ( AED s). ADCME has been reported worldwide with different genetic loci in Japanese families (8q23.3‐q24.1), Italian families (2p11.1‐q12.2), a French family (5p15.3.1‐p15.1), and a Thai family (3q26.32‐q28). ADCME has not been reported in South India and is still not recognized as an independent entity under the International League Against Epilepsy ( ILAE ). We report 241 patients with ADCME identified belonging to 48 families. The 48 families are domiciled in two southern districts of Tamilnadu in India, belonging to a community called “Nadar” whose nativity is confined to these southern districts, with reported unique genetic characteristics. This study is reported for the presentation of this rare disease in a unique ethnic group, and is the largest single report on ADCME worldwide.