Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy.
Identifieur interne : 000134 ( Ncbi/Merge ); précédent : 000133; suivant : 000135Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy.
Auteurs : P. Chariot [France] ; P. Brugières ; M C Eliezer-Vanerot ; C. Gény ; M. Binaghi ; P. CésaroSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1999.
English descriptors
- KwdEn :
- Adult, Antioxidants (therapeutic use), Chorea (complications), Chorea (diagnosis), Chorea (drug therapy), Coenzymes, DNA Mutational Analysis, DNA, Mitochondrial (genetics), Functional Laterality (physiology), Humans, Magnetic Resonance Imaging, Male, Optic Atrophies, Hereditary (complications), Subthalamic Nucleus (pathology), Treatment Outcome, Ubiquinone (analogs & derivatives), Ubiquinone (therapeutic use), Vitamins (therapeutic use).
- MESH :
- chemical , analogs & derivatives : Ubiquinone.
- chemical , genetics : DNA, Mitochondrial.
- chemical , therapeutic use : Antioxidants, Ubiquinone, Vitamins.
- complications : Chorea, Optic Atrophies, Hereditary.
- diagnosis : Chorea.
- drug therapy : Chorea.
- pathology : Subthalamic Nucleus.
- physiology : Functional Laterality.
- Adult, Coenzymes, DNA Mutational Analysis, Humans, Magnetic Resonance Imaging, Male, Treatment Outcome.
Abstract
A 37-year-old man developed choreic movements of the limbs over a few months. His medical history included bilateral visual loss detected at the age of 9 and worsening at age 20. Visual field testing showed a central scotoma. Fundus examination showed atrophy of the optic disks and narrowing of vessels. The diagnosis of Leber hereditary optic neuropathy (LHON) was considered. There was no family history of visual loss or movement disorders. Blood lactate:pyruvate ratio was moderately elevated. Skeletal muscle biopsy was normal. Magnetic resonance imaging showed bilateral hypointense lesions on T1-weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2-weighted sequences. Nine LHON-associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.
PubMed: 10495052
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy.</title><author><name sortKey="Chariot, P" sort="Chariot, P" uniqKey="Chariot P" first="P" last="Chariot">P. Chariot</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Hôpital Henri-Mondor, Université Paris XII, Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Hôpital Henri-Mondor, Université Paris XII, Créteil</wicri:regionArea><placeName><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Brugieres, P" sort="Brugieres, P" uniqKey="Brugieres P" first="P" last="Brugières">P. Brugières</name></author><author><name sortKey="Eliezer Vanerot, M C" sort="Eliezer Vanerot, M C" uniqKey="Eliezer Vanerot M" first="M C" last="Eliezer-Vanerot">M C Eliezer-Vanerot</name></author><author><name sortKey="Geny, C" sort="Geny, C" uniqKey="Geny C" first="C" last="Gény">C. Gény</name></author><author><name sortKey="Binaghi, M" sort="Binaghi, M" uniqKey="Binaghi M" first="M" last="Binaghi">M. Binaghi</name></author><author><name sortKey="Cesaro, P" sort="Cesaro, P" uniqKey="Cesaro P" first="P" last="Césaro">P. 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Chariot</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Hôpital Henri-Mondor, Université Paris XII, Créteil, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Hôpital Henri-Mondor, Université Paris XII, Créteil</wicri:regionArea><placeName><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Brugieres, P" sort="Brugieres, P" uniqKey="Brugieres P" first="P" last="Brugières">P. Brugières</name></author><author><name sortKey="Eliezer Vanerot, M C" sort="Eliezer Vanerot, M C" uniqKey="Eliezer Vanerot M" first="M C" last="Eliezer-Vanerot">M C Eliezer-Vanerot</name></author><author><name sortKey="Geny, C" sort="Geny, C" uniqKey="Geny C" first="C" last="Gény">C. Gény</name></author><author><name sortKey="Binaghi, M" sort="Binaghi, M" uniqKey="Binaghi M" first="M" last="Binaghi">M. Binaghi</name></author><author><name sortKey="Cesaro, P" sort="Cesaro, P" uniqKey="Cesaro P" first="P" last="Césaro">P. Césaro</name></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="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antioxidants (therapeutic use)</term><term>Chorea (complications)</term><term>Chorea (diagnosis)</term><term>Chorea (drug therapy)</term><term>Coenzymes</term><term>DNA Mutational Analysis</term><term>DNA, Mitochondrial (genetics)</term><term>Functional Laterality (physiology)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Optic Atrophies, Hereditary (complications)</term><term>Subthalamic Nucleus (pathology)</term><term>Treatment Outcome</term><term>Ubiquinone (analogs & derivatives)</term><term>Ubiquinone (therapeutic use)</term><term>Vitamins (therapeutic use)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Ubiquinone</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antioxidants</term><term>Ubiquinone</term><term>Vitamins</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Chorea</term><term>Optic Atrophies, Hereditary</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Subthalamic Nucleus</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Functional Laterality</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Coenzymes</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Treatment Outcome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 37-year-old man developed choreic movements of the limbs over a few months. His medical history included bilateral visual loss detected at the age of 9 and worsening at age 20. Visual field testing showed a central scotoma. Fundus examination showed atrophy of the optic disks and narrowing of vessels. The diagnosis of Leber hereditary optic neuropathy (LHON) was considered. There was no family history of visual loss or movement disorders. Blood lactate:pyruvate ratio was moderately elevated. Skeletal muscle biopsy was normal. Magnetic resonance imaging showed bilateral hypointense lesions on T1-weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2-weighted sequences. Nine LHON-associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">10495052</PMID><DateCreated><Year>1999</Year><Month>11</Month><Day>10</Day></DateCreated><DateCompleted><Year>1999</Year><Month>11</Month><Day>10</Day></DateCompleted><DateRevised><Year>2014</Year><Month>11</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>14</Volume><Issue>5</Issue><PubDate><Year>1999</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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Magnetic resonance imaging showed bilateral hypointense lesions on T1-weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2-weighted sequences. Nine LHON-associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chariot</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Pathology, Hôpital Henri-Mondor, Université Paris XII, Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brugières</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Eliezer-Vanerot</LastName><ForeName>M C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Gény</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Binaghi</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author 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UI="D014815">Vitamins</NameOfSubstance></Chemical><Chemical><RegistryNumber>1339-63-5</RegistryNumber><NameOfSubstance UI="D014451">Ubiquinone</NameOfSubstance></Chemical><Chemical><RegistryNumber>EJ27X76M46</RegistryNumber><NameOfSubstance UI="C024989">coenzyme Q10</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000975">Antioxidants</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003067">Coenzymes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004272">DNA, Mitochondrial</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007839">Functional Laterality</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015418">Optic Atrophies, Hereditary</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020531">Subthalamic Nucleus</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016896">Treatment Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014451">Ubiquinone</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000031">analogs & derivatives</QualifierName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014815">Vitamins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>9</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>9</Month><Day>24</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>9</Month><Day>24</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10495052</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><settlement><li>Créteil</li></settlement></list><tree><noCountry><name sortKey="Binaghi, M" sort="Binaghi, M" uniqKey="Binaghi M" first="M" last="Binaghi">M. Binaghi</name><name sortKey="Brugieres, P" sort="Brugieres, P" uniqKey="Brugieres P" first="P" last="Brugières">P. Brugières</name><name sortKey="Cesaro, P" sort="Cesaro, P" uniqKey="Cesaro P" first="P" last="Césaro">P. Césaro</name><name sortKey="Eliezer Vanerot, M C" sort="Eliezer Vanerot, M C" uniqKey="Eliezer Vanerot M" first="M C" last="Eliezer-Vanerot">M C Eliezer-Vanerot</name><name sortKey="Geny, C" sort="Geny, C" uniqKey="Geny C" first="C" last="Gény">C. Gény</name></noCountry><country name="France"><noRegion><name sortKey="Chariot, P" sort="Chariot, P" uniqKey="Chariot P" first="P" last="Chariot">P. Chariot</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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