The Phenotypic Spectrum of Dystonia in Mohr-Tranebjaerg Syndrome
Identifieur interne : 000F51 ( Main/Exploration ); précédent : 000F50; suivant : 000F52The Phenotypic Spectrum of Dystonia in Mohr-Tranebjaerg Syndrome
Auteurs : Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt [Australie] ; Nanna D. Rendtorff [Danemark] ; Marianne Lodahl [Danemark] ; Karl Ng [Australie] ; Dominic B. Rowe [Australie] ; Carolyn M. Sue [Australie] ; Michael W. Hayes [Australie] ; Lisbeth Tranebjaerg [Danemark] ; Victor S. C. Fung [Australie]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.
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Sue</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Royal North Shore Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Hayes, Michael W" sort="Hayes, Michael W" uniqKey="Hayes M" first="Michael W." last="Hayes">Michael W. Hayes</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Concord Repatriation General Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine; The Panum Institute, University of Copenhagen</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Audiology, H:S Bispebjerg Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S. 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Ha</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Movement Disorders Unit, Department of Neurology, Westmead Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Parratt, Kaitlyn L" sort="Parratt, Kaitlyn L" uniqKey="Parratt K" first="Kaitlyn L." last="Parratt">Kaitlyn L. Parratt</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Movement Disorders Unit, Department of Neurology, Westmead Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Rendtorff, Nanna D" sort="Rendtorff, Nanna D" uniqKey="Rendtorff N" first="Nanna D." last="Rendtorff">Nanna D. Rendtorff</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine; The Panum Institute, University of Copenhagen</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Lodahl, Marianne" sort="Lodahl, Marianne" uniqKey="Lodahl M" first="Marianne" last="Lodahl">Marianne Lodahl</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine; The Panum Institute, University of Copenhagen</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Ng, Karl" sort="Ng, Karl" uniqKey="Ng K" first="Karl" last="Ng">Karl Ng</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Royal North Shore Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Australian School of Advanced Medicine, Macquarie University</s1><s2>Sydney</s2><s3>AUS</s3><sZ>6 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Royal North Shore Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Hayes, Michael W" sort="Hayes, Michael W" uniqKey="Hayes M" first="Michael W." last="Hayes">Michael W. Hayes</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Concord Repatriation General Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine; The Panum Institute, University of Copenhagen</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Audiology, H:S Bispebjerg Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>9 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S. C." last="Fung">Victor S. C. Fung</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Movement Disorders Unit, Department of Neurology, Westmead Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Sydney Medical School, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Auditory disorder</term><term>Dystonia</term><term>Hearing loss</term><term>Mohr syndrome</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Syndrome de Mohr</term><term>Surdité</term><term>Trouble de l'audition</term><term>Pathologie du système nerveux</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Danemark</li></country><region><li>Hovedstaden</li></region><settlement><li>Copenhague</li><li>Sydney</li></settlement></list><tree><country name="Australie"><noRegion><name sortKey="Ha, Ainhi D" sort="Ha, Ainhi D" uniqKey="Ha A" first="Ainhi D." last="Ha">Ainhi D. Ha</name></noRegion><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S. C." last="Fung">Victor S. C. Fung</name><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S. C." last="Fung">Victor S. C. Fung</name><name sortKey="Hayes, Michael W" sort="Hayes, Michael W" uniqKey="Hayes M" first="Michael W." last="Hayes">Michael W. Hayes</name><name sortKey="Hayes, Michael W" sort="Hayes, Michael W" uniqKey="Hayes M" first="Michael W." last="Hayes">Michael W. Hayes</name><name sortKey="Ng, Karl" sort="Ng, Karl" uniqKey="Ng K" first="Karl" last="Ng">Karl Ng</name><name sortKey="Ng, Karl" sort="Ng, Karl" uniqKey="Ng K" first="Karl" last="Ng">Karl Ng</name><name sortKey="Parratt, Kaitlyn L" sort="Parratt, Kaitlyn L" uniqKey="Parratt K" first="Kaitlyn L." last="Parratt">Kaitlyn L. Parratt</name><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Rendtorff, Nanna D" sort="Rendtorff, Nanna D" uniqKey="Rendtorff N" first="Nanna D." last="Rendtorff">Nanna D. Rendtorff</name></region><name sortKey="Lodahl, Marianne" sort="Lodahl, Marianne" uniqKey="Lodahl M" first="Marianne" last="Lodahl">Marianne Lodahl</name><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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