MovDisordV3, PascalFrancis, Corpus, bibRecord, 001610

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 : 001611

Blepharospasm 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. Bhatia

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0391086

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Blépharospasme, Dystonie, Mohr syndrome, Surdité, Epissage, Epissure, Mutation, Peptide.

English descriptors

KwdEn :
- Blepharospasm, Dystonia, Hearing loss, Mohr syndrome, Mutation, Nervous system diseases, Peptides, Splice, Splicing.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`02`	`1`		`@1 EDWARDS (Mark J.)`
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A11	`04`	`1`		`@1 QUINN (Niall P.)`
A11	`05`	`1`		`@1 BITNER-GLINDZICZ (Maria)`
A11	`06`	`1`		`@1 BHATIA (Kailash P.)`
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C01	`01`		`ENG`	@0 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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C03	`02`	`X`	`FRE`	`@0 Blépharospasme @5 02`
C03	`02`	`X`	`ENG`	`@0 Blepharospasm @5 02`
C03	`02`	`X`	`SPA`	`@0 Blefaroespasmo @5 02`
C03	`03`	`X`	`FRE`	`@0 Dystonie @5 03`
C03	`03`	`X`	`ENG`	`@0 Dystonia @5 03`
C03	`03`	`X`	`SPA`	`@0 Distonía @5 03`
C03	`04`	`X`	`FRE`	`@0 Mohr syndrome @5 04`
C03	`04`	`X`	`ENG`	`@0 Mohr syndrome @5 04`
C03	`04`	`X`	`SPA`	`@0 Mohr síndrome @5 04`
C03	`05`	`X`	`FRE`	`@0 Surdité @5 05`
C03	`05`	`X`	`ENG`	`@0 Hearing loss @5 05`
C03	`05`	`X`	`SPA`	`@0 Sordera @5 05`
C03	`06`	`X`	`FRE`	`@0 Epissage @5 09`
C03	`06`	`X`	`ENG`	`@0 Splicing @5 09`
C03	`06`	`X`	`SPA`	`@0 Empalme @5 09`
C03	`07`	`X`	`FRE`	`@0 Epissure @5 10`
C03	`07`	`X`	`ENG`	`@0 Splice @5 10`
C03	`07`	`X`	`SPA`	`@0 Punto empalme @5 10`
C03	`08`	`X`	`FRE`	`@0 Mutation @5 11`
C03	`08`	`X`	`ENG`	`@0 Mutation @5 11`
C03	`08`	`X`	`SPA`	`@0 Mutación @5 11`
C03	`09`	`X`	`FRE`	`@0 Peptide @5 12`
C03	`09`	`X`	`ENG`	`@0 Peptides @5 12`
C03	`09`	`X`	`SPA`	`@0 Péptido @5 12`
C07	`01`	`X`	`FRE`	`@0 Oeil pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Eye disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Ojo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Paupière pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Eyelid disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Párpado patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`04`	`X`	`FRE`	`@0 Mouvement involontaire @5 40`
C07	`04`	`X`	`ENG`	`@0 Involuntary movement @5 40`
C07	`04`	`X`	`SPA`	`@0 Movimiento involuntario @5 40`
C07	`05`	`X`	`FRE`	`@0 Muscle strié pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Striated muscle disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Músculo estriado patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
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C07	`07`	`X`	`ENG`	`@0 Dysostosis @5 43`
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C07	`08`	`X`	`FRE`	`@0 Maladie héréditaire @5 44`
C07	`08`	`X`	`ENG`	`@0 Genetic disease @5 44`
C07	`08`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 44`
C07	`09`	`X`	`FRE`	`@0 Stomatologie @5 45`
C07	`09`	`X`	`ENG`	`@0 Stomatology @5 45`
C07	`09`	`X`	`SPA`	`@0 Estomatología @5 45`
C07	`10`	`X`	`FRE`	`@0 Système ostéoarticulaire pathologie @5 46`
C07	`10`	`X`	`ENG`	`@0 Diseases of the osteoarticular system @5 46`
C07	`10`	`X`	`SPA`	`@0 Sistema osteoarticular patología @5 46`
C07	`11`	`X`	`FRE`	`@0 ORL pathologie @5 47`
C07	`11`	`X`	`ENG`	`@0 ENT disease @5 47`
C07	`11`	`X`	`SPA`	`@0 ORL patología @5 47`
C07	`12`	`X`	`FRE`	`@0 Trouble audition @5 48`
C07	`12`	`X`	`ENG`	`@0 Auditory disorder @5 48`
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C07	`14`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 50`
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Format Inist (serveur)

NO :	PASCAL 07-0391086 INIST
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

Links to Exploration step

Pascal:07-0391086

Le document en format XML

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<front><div type="abstract" xml:lang="en">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.</div>
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<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Blépharospasme</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Blepharospasm</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Blefaroespasmo</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Distonía</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mohr syndrome</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mohr syndrome</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mohr síndrome</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Surdité</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Hearing loss</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Sordera</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Epissage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Splicing</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Empalme</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Epissure</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Splice</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Punto empalme</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Mutation</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Peptide</s0>
<s5>12</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Peptides</s0>
<s5>12</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Péptido</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Paupière pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Eyelid disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Párpado patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Dysostose</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Dysostosis</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Disostosis</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Stomatologie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Stomatology</s0>
<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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	Movement Disorders (revue)
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Movement Disorders (revue)

Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

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