MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001769

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

Identifieur interne : 001769 ( PascalFrancis/Checkpoint ); précédent : 001768; suivant : 001770

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 [Royaume-Uni] ; Mark J. Edwards [Royaume-Uni] ; Jess Tyson [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Maria Bitner-Glindzicz [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]

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.

Affiliations:

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Pascal:07-0391086

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Blepharospasm and limb dystonia caused by mohr-tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene</title>
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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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<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>
</inist>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Kim, Hee T" sort="Kim, Hee T" uniqKey="Kim H" first="Hee T." last="Kim">Hee T. Kim</name>
</region>
<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<name sortKey="Bitner Glindzicz, Maria" sort="Bitner Glindzicz, Maria" uniqKey="Bitner Glindzicz M" first="Maria" last="Bitner-Glindzicz">Maria Bitner-Glindzicz</name>
<name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name>
<name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
<name sortKey="Tyson, Jess" sort="Tyson, Jess" uniqKey="Tyson J" first="Jess" last="Tyson">Jess Tyson</name>
</country>
</tree>
</affiliations>
</record>

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   |texte=   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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	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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