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Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Zimmern, Vincent; Riant, Florence; Roze, Emmanuel; Ranza, Emmanuelle; Lehmann-Horn, Frank; de Bellescize, Julitta; Ville, Dorothée; Lesca, Gaetan; Korff, Christian M.
Affiliation
  • Zimmern V; Division of Pediatric Neurology, University of Texas Southwestern, Dallas, Texas, United States.
  • Riant F; Laboratoire de Génétique Moléculaire Neurovasculaire, Groupe Hospitalier Saint-Louis-Lariboisière-Fernand-Widal, Paris, France.
  • Roze E; Sorbonne Université, Faculté de Médecine ; CNRS UMR 7225, UMR S 1127 ; Institut du Cerveau et de la Moelle épinière; APHP, Hôpital Salpêtrière, Département de Neurologie, Paris, France.
  • Ranza E; Service of Genetic Medicine, University Hospitals, Geneva, Switzerland.
  • Lehmann-Horn F; Department of Neurophysiology, Ulm University, Ulm, Germany.
  • de Bellescize J; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, Lyon, France.
  • Ville D; Centre de référence « Déficiences Intellectuelles de causes rares ¼, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
  • Lesca G; Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.
  • Korff CM; Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
Neuropediatrics ; 50(5): 308-312, 2019 10.
Article de En | MEDLINE | ID: mdl-31226716
ABSTRACT
Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.
Sujet(s)

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ataxie / Protéines d'activation de la GTPase / Troubles de la motricité Type d'étude: Risk_factors_studies Limites: Humans / Infant / Male Langue: En Journal: Neuropediatrics Année: 2019 Type de document: Article Pays d'affiliation: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ataxie / Protéines d'activation de la GTPase / Troubles de la motricité Type d'étude: Risk_factors_studies Limites: Humans / Infant / Male Langue: En Journal: Neuropediatrics Année: 2019 Type de document: Article Pays d'affiliation: États-Unis d'Amérique