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The hyperkinetic movement disorder of FOXG 1 ‐related epileptic–dyskinetic encephalopathy
Author(s) -
Cellini Elena,
Vignoli Aglaia,
Pisano Tiziana,
Falchi Melania,
Molinaro Anna,
Accorsi Patrizia,
Bontacchio Alessia,
Pinelli Lorenzo,
Giordano Lucio,
Guerrini Renzo
Publication year - 2016
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12894
Subject(s) - chorea , dystonia , athetosis , microcephaly , movement disorders , choreoathetosis , encephalopathy , epilepsy , pediatrics , psychology , neuroscience , medicine , physical medicine and rehabilitation , psychiatry , disease
Aim Forkhead Box G1 ( FOXG 1 ) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG 1 syndrome have often been mentioned but not characterized. Method We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG 1 gene and describe the peculiar pattern of the associated movement disorder. Results The age of the patients in the study ranged from 2 to 17 years old (six females, two males). They had severe epilepsy and exhibited a complex motor disorder including various combinations of dyskinetic and hyperkinetic movements featuring dystonia, chorea, and athetosis. The onset of the movement disorder was apparent within the first year of life, reached its maximum expression within months, and then remained stable. Interpretation A hyperkinetic–dyskinetic movement disorder emerges as a distinctive feature of the FOXG 1 ‐related phenotype. FOXG 1 syndrome is as an epileptic–dyskinetic encephalopathy whose clinical presentation bears similarities with ARX ‐ and STXBP 1 ‐gene related encephalopathies.