Atypical Parkinsonism in distal myopathy with rimmed vacuoles
Identifieur interne : 002984 ( Main/Exploration ); précédent : 002983; suivant : 002985Atypical Parkinsonism in distal myopathy with rimmed vacuoles
Auteurs : Tomohiko Ishihara [Japon] ; Tetsutaro Ozawa [Japon] ; Shuichi Igarashi [Japon] ; Yuko Kitsukawa [Japon] ; Masahito Takagi [Japon] ; Masaki Hirose [Japon] ; Takayoshi Tokutake [Japon] ; Keiko Tanaka [Japon] ; Masatoyo Nishizawa [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-30.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Distal Myopathies (pathology), Dystonia, Dystonia (pathology), Dystonia (physiopathology), Electromyography, GNE mutation, Humans, Hypokinesia (etiology), Male, Middle Aged, Mutation, Myopathy, Nervous system diseases, Parkinson Disease (pathology), Parkinsonism, Tremor, Vacuole, Vacuoles (pathology), Vacuoles (ultrastructure), atypical Parkinsonism, dystonia, rimmed vacuole, writing tremor.
- MESH :
- etiology : Hypokinesia.
- pathology : Distal Myopathies, Dystonia, Parkinson Disease, Vacuoles.
- physiopathology : Dystonia.
- ultrastructure : Vacuoles.
- Electromyography, Humans, Male, Middle Aged.
Abstract
A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta‐iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22018
Affiliations:
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Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-04-30">2008-04-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="912">912</biblScope><biblScope unit="page" to="915">915</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4C30208361DAF89DCE061307ACA866119118F8E6</idno><idno type="DOI">10.1002/mds.22018</idno><idno type="ArticleID">MDS22018</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Distal Myopathies (pathology)</term><term>Dystonia</term><term>Dystonia (pathology)</term><term>Dystonia (physiopathology)</term><term>Electromyography</term><term>GNE mutation</term><term>Humans</term><term>Hypokinesia (etiology)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Myopathy</term><term>Nervous system diseases</term><term>Parkinson Disease (pathology)</term><term>Parkinsonism</term><term>Tremor</term><term>Vacuole</term><term>Vacuoles (pathology)</term><term>Vacuoles (ultrastructure)</term><term>atypical Parkinsonism</term><term>dystonia</term><term>rimmed vacuole</term><term>writing tremor</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hypokinesia</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Distal Myopathies</term><term>Dystonia</term><term>Parkinson Disease</term><term>Vacuoles</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Vacuoles</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Electromyography</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Mutation</term><term>Myopathie</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Tremblement</term><term>Vacuole</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta‐iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Ishihara, Tomohiko" sort="Ishihara, Tomohiko" uniqKey="Ishihara T" first="Tomohiko" last="Ishihara">Tomohiko Ishihara</name></noRegion><name sortKey="Hirose, Masaki" sort="Hirose, Masaki" uniqKey="Hirose M" first="Masaki" last="Hirose">Masaki Hirose</name><name sortKey="Igarashi, Shuichi" sort="Igarashi, Shuichi" uniqKey="Igarashi S" first="Shuichi" last="Igarashi">Shuichi Igarashi</name><name sortKey="Kitsukawa, Yuko" sort="Kitsukawa, Yuko" uniqKey="Kitsukawa Y" first="Yuko" last="Kitsukawa">Yuko Kitsukawa</name><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name><name sortKey="Takagi, Masahito" sort="Takagi, Masahito" uniqKey="Takagi M" first="Masahito" last="Takagi">Masahito Takagi</name><name sortKey="Tanaka, Keiko" sort="Tanaka, Keiko" uniqKey="Tanaka K" first="Keiko" last="Tanaka">Keiko Tanaka</name><name sortKey="Tokutake, Takayoshi" sort="Tokutake, Takayoshi" uniqKey="Tokutake T" first="Takayoshi" last="Tokutake">Takayoshi Tokutake</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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