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 : 004D85 ( Main/Exploration ); précédent : 004D84; suivant : 004D86Choreic 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 : Patrick Chariot [France] ; Pierre Brugières [France] ; Marie-Christine Eliezer-Vanerot [France] ; Christian Gény [France] ; Michel Binaghi [France] ; Pierre Césaro [France]Source :
- Movement Disorders [ 0885-3185 ] ; 1999-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Antioxidants (therapeutic use), Case study, Chorea, Chorea (complications), Chorea (diagnosis), Chorea (drug therapy), Coenzyme Q10, Coenzymes, DNA Mutational Analysis, DNA, Mitochondrial (genetics), Etiology, Exploration, Functional Laterality (physiology), Grey matter, Human, Humans, Leber hereditary optic neuropathy, Leber optic neuropathy, MRI, Magnetic Resonance Imaging, Male, Mitochondria, Nuclear magnetic resonance imaging, Optic Atrophies, Hereditary (complications), Optic nerve, Optic neuropathy, Subthalamic Nucleus (pathology), Subthalamic nucleus, Treatment, 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.
Url:
DOI: 10.1002/1531-8257(199909)14:5<855::AID-MDS1023>3.0.CO;2-9
Affiliations:
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Antioxidants (therapeutic use)</term>
<term>Case study</term>
<term>Chorea</term>
<term>Chorea (complications)</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (drug therapy)</term>
<term>Coenzyme Q10</term>
<term>Coenzymes</term>
<term>DNA Mutational Analysis</term>
<term>DNA, Mitochondrial (genetics)</term>
<term>Etiology</term>
<term>Exploration</term>
<term>Functional Laterality (physiology)</term>
<term>Grey matter</term>
<term>Human</term>
<term>Humans</term>
<term>Leber hereditary optic neuropathy</term>
<term>Leber optic neuropathy</term>
<term>MRI</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mitochondria</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Optic Atrophies, Hereditary (complications)</term>
<term>Optic nerve</term>
<term>Optic neuropathy</term>
<term>Subthalamic Nucleus (pathology)</term>
<term>Subthalamic nucleus</term>
<term>Treatment</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>
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<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>
<keywords scheme="Pascal" xml:lang="fr"><term>Chorée syndrome</term>
<term>Coenzyme Q10</term>
<term>Etiologie</term>
<term>Etude cas</term>
<term>Exploration</term>
<term>Homme</term>
<term>Imagerie RMN</term>
<term>Nerf optique</term>
<term>Neuropathie optique Leber</term>
<term>Noyau sousthalamique</term>
<term>Substance grise</term>
<term>Traitement</term>
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<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>
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<tree><country name="France"><noRegion><name sortKey="Chariot, Patrick" sort="Chariot, Patrick" uniqKey="Chariot P" first="Patrick" last="Chariot">Patrick Chariot</name>
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<name sortKey="Binaghi, Michel" sort="Binaghi, Michel" uniqKey="Binaghi M" first="Michel" last="Binaghi">Michel Binaghi</name>
<name sortKey="Brugieres, Pierre" sort="Brugieres, Pierre" uniqKey="Brugieres P" first="Pierre" last="Brugières">Pierre Brugières</name>
<name sortKey="Cesaro, Pierre" sort="Cesaro, Pierre" uniqKey="Cesaro P" first="Pierre" last="Césaro">Pierre Césaro</name>
<name sortKey="Chariot, Patrick" sort="Chariot, Patrick" uniqKey="Chariot P" first="Patrick" last="Chariot">Patrick Chariot</name>
<name sortKey="Eliezer Anerot, Marie Hristine" sort="Eliezer Anerot, Marie Hristine" uniqKey="Eliezer Anerot M" first="Marie-Christine" last="Eliezer-Vanerot">Marie-Christine Eliezer-Vanerot</name>
<name sortKey="Geny, Christian" sort="Geny, Christian" uniqKey="Geny C" first="Christian" last="Gény">Christian Gény</name>
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