Adult-onset chorea and mitochondrial cytopathy.
Identifieur interne : 001127 ( Ncbi/Checkpoint ); précédent : 001126; suivant : 001128Adult-onset chorea and mitochondrial cytopathy.
Auteurs : Morgane Caer [France] ; Karine Viala ; Richard Levy ; Thierry Maisonobe ; Florence Chochon ; Agnès Lombès ; Yves Agid [France]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Age of Onset, Biopsy, Cerebrospinal Fluid Proteins (metabolism), Chorea (genetics), Chorea (metabolism), Chorea (pathology), Cognition Disorders (diagnosis), DNA Mutational Analysis, Female, Humans, Male, Mitochondrial Diseases (genetics), Mitochondrial Diseases (metabolism), Mitochondrial Diseases (pathology), Muscle Fibers, Fast-Twitch (metabolism), Muscle Fibers, Fast-Twitch (pathology), Muscle, Skeletal (metabolism), Muscle, Skeletal (pathology), Neuropsychological Tests.
- MESH :
- chemical , metabolism : Cerebrospinal Fluid Proteins.
- diagnosis : Cognition Disorders.
- genetics : Chorea, Mitochondrial Diseases.
- metabolism : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- pathology : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- Adult, Age of Onset, Biopsy, DNA Mutational Analysis, Female, Humans, Male, Neuropsychological Tests.
Abstract
We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.
DOI: 10.1002/mds.20363
PubMed: 15597339
Affiliations:
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first="Thierry" last="Maisonobe">Thierry Maisonobe</name></author><author><name sortKey="Chochon, Florence" sort="Chochon, Florence" uniqKey="Chochon F" first="Florence" last="Chochon">Florence Chochon</name></author><author><name sortKey="Lombes, Agnes" sort="Lombes, Agnes" uniqKey="Lombes A" first="Agnès" last="Lombès">Agnès Lombès</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20363</idno><idno type="RBID">pubmed:15597339</idno><idno type="pmid">15597339</idno><idno type="wicri:Area/PubMed/Corpus">003174</idno><idno 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last="Viala">Karine Viala</name></author><author><name sortKey="Levy, Richard" sort="Levy, Richard" uniqKey="Levy R" first="Richard" last="Levy">Richard Levy</name></author><author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name></author><author><name sortKey="Chochon, Florence" sort="Chochon, Florence" uniqKey="Chochon F" first="Florence" last="Chochon">Florence Chochon</name></author><author><name sortKey="Lombes, Agnes" sort="Lombes, Agnes" uniqKey="Lombes A" first="Agnès" last="Lombès">Agnès Lombès</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Biopsy</term><term>Cerebrospinal Fluid Proteins (metabolism)</term><term>Chorea (genetics)</term><term>Chorea (metabolism)</term><term>Chorea (pathology)</term><term>Cognition Disorders (diagnosis)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Mitochondrial Diseases (genetics)</term><term>Mitochondrial Diseases (metabolism)</term><term>Mitochondrial Diseases (pathology)</term><term>Muscle Fibers, Fast-Twitch (metabolism)</term><term>Muscle Fibers, Fast-Twitch (pathology)</term><term>Muscle, Skeletal (metabolism)</term><term>Muscle, Skeletal (pathology)</term><term>Neuropsychological Tests</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Cerebrospinal Fluid Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term><term>Muscle Fibers, Fast-Twitch</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term><term>Muscle Fibers, Fast-Twitch</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Biopsy</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Neuropsychological Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Chochon, Florence" sort="Chochon, Florence" uniqKey="Chochon F" first="Florence" last="Chochon">Florence Chochon</name><name sortKey="Levy, Richard" sort="Levy, Richard" uniqKey="Levy R" first="Richard" last="Levy">Richard Levy</name><name sortKey="Lombes, Agnes" sort="Lombes, Agnes" uniqKey="Lombes A" first="Agnès" last="Lombès">Agnès Lombès</name><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name><name sortKey="Viala, Karine" sort="Viala, Karine" uniqKey="Viala K" first="Karine" last="Viala">Karine Viala</name></noCountry><country name="France"><noRegion><name sortKey="Caer, Morgane" sort="Caer, Morgane" uniqKey="Caer M" first="Morgane" last="Caer">Morgane Caer</name></noRegion><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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