title: Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.
abstract: Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom.
authors.forename: Hee T
authors.initials: HT
authors.lastname: Kim
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: Jess
authors.initials: J
authors.lastname: Tyson
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000328:Adult; D001764:Blepharospasm / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004421:Dystonia / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation / Q000235:genetics*; D009958:Orofaciodigital Syndromes / Q000150:complications / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D022821:RNA Splice Sites; C118122:TIMM8A protein, human