Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
Identifieur interne : 001610 ( PascalFrancis/Corpus ); précédent : 001609; suivant : 001611Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
Auteurs : Hee T. Kim ; Mark J. Edwards ; Jess Tyson ; Niall P. Quinn ; Maria Bitner-Glindzicz ; Kailash P. BhatiaSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
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Format Inist (serveur)
NO : | PASCAL 07-0391086 INIST |
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ET : | Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene |
AU : | KIM (Hee T.); EDWARDS (Mark J.); TYSON (Jess); QUINN (Niall P.); BITNER-GLINDZICZ (Maria); BHATIA (Kailash P.) |
AF : | Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology/London/Royaume-Uni (1 aut., 2 aut., 4 aut., 6 aut.); Clinical and Molecular Genetics Unit, Institute of Child Health/London/Royaume-Uni (3 aut., 5 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1328-1331; Bibl. 15 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17H; 002B17G |
FD : | Système nerveux pathologie; Blépharospasme; Dystonie; Mohr syndrome; Surdité; Epissage; Epissure; Mutation; Peptide |
FG : | Oeil pathologie; Paupière pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Dysostose; Maladie héréditaire; Stomatologie; Système ostéoarticulaire pathologie; ORL pathologie; Trouble audition; Encéphale pathologie; Système nerveux central pathologie |
ED : | Nervous system diseases; Blepharospasm; Dystonia; Mohr syndrome; Hearing loss; Splicing; Splice; Mutation; Peptides |
EG : | Eye disease; Eyelid disease; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Dysostosis; Genetic disease; Stomatology; Diseases of the osteoarticular system; ENT disease; Auditory disorder; Cerebral disorder; Central nervous system disease |
SD : | Sistema nervioso patología; Blefaroespasmo; Distonía; Mohr síndrome; Sordera; Empalme; Punto empalme; Mutación; Péptido |
LO : | INIST-20953.354000146732490190 |
ID : | 07-0391086 |
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Pascal:07-0391086Le document en format XML
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<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Estomatología</s0>
<s5>45</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Système ostéoarticulaire pathologie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0>
<s5>46</s5>
</fC07>
<fC07 i1="11" i2="X" l="FRE"><s0>ORL pathologie</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG"><s0>ENT disease</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>ORL patología</s0>
<s5>47</s5>
</fC07>
<fC07 i1="12" i2="X" l="FRE"><s0>Trouble audition</s0>
<s5>48</s5>
</fC07>
<fC07 i1="12" i2="X" l="ENG"><s0>Auditory disorder</s0>
<s5>48</s5>
</fC07>
<fC07 i1="12" i2="X" l="SPA"><s0>Trastorno auditivo</s0>
<s5>48</s5>
</fC07>
<fC07 i1="13" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>49</s5>
</fC07>
<fC07 i1="13" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>49</s5>
</fC07>
<fC07 i1="13" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>49</s5>
</fC07>
<fC07 i1="14" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>50</s5>
</fC07>
<fC07 i1="14" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>50</s5>
</fC07>
<fC07 i1="14" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>50</s5>
</fC07>
<fN21><s1>253</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0391086 INIST</NO>
<ET>Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene</ET>
<AU>KIM (Hee T.); EDWARDS (Mark J.); TYSON (Jess); QUINN (Niall P.); BITNER-GLINDZICZ (Maria); BHATIA (Kailash P.)</AU>
<AF>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology/London/Royaume-Uni (1 aut., 2 aut., 4 aut., 6 aut.); Clinical and Molecular Genetics Unit, Institute of Child Health/London/Royaume-Uni (3 aut., 5 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1328-1331; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H; 002B17G</CC>
<FD>Système nerveux pathologie; Blépharospasme; Dystonie; Mohr syndrome; Surdité; Epissage; Epissure; Mutation; Peptide</FD>
<FG>Oeil pathologie; Paupière pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Dysostose; Maladie héréditaire; Stomatologie; Système ostéoarticulaire pathologie; ORL pathologie; Trouble audition; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Blepharospasm; Dystonia; Mohr syndrome; Hearing loss; Splicing; Splice; Mutation; Peptides</ED>
<EG>Eye disease; Eyelid disease; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Dysostosis; Genetic disease; Stomatology; Diseases of the osteoarticular system; ENT disease; Auditory disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Blefaroespasmo; Distonía; Mohr síndrome; Sordera; Empalme; Punto empalme; Mutación; Péptido</SD>
<LO>INIST-20953.354000146732490190</LO>
<ID>07-0391086</ID>
</server>
</inist>
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