title: The 4H syndrome due to RNF216 mutation.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom; Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany. Electronic address: cganos@gmail.com.
authors.forename: Christos
authors.initials: C
authors.lastname: Ganos
authors.affiliation: Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.
authors.forename: Joshua
authors.initials: J
authors.lastname: Hersheson
authors.affiliation: Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
authors.forename: Matthew
authors.initials: M
authors.lastname: Adams
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom.
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.affiliation: Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D020278:Demyelinating Autoimmune Diseases, CNS / Q000150:complications / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C458527:RNF216 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: 4H syndrome; Cerebellar ataxia; Hypogonadotropic hypogonadism; RNF216