Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies
Identifieur interne : 006298 ( Main/Exploration ); précédent : 006297; suivant : 006299Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies
Auteurs : Truong [Royaume-Uni, États-Unis] ; Harding [Royaume-Uni] ; F. Scaravilli [Royaume-Uni] ; S. J. M. Smith [Royaume-Uni] ; J. A. Morgan-Hughes [Royaume-Uni] ; C. D. Marsden [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1990.
English descriptors
- KwdEn :
- Adult, Aged, Brain (pathology), Chorea, Dystonia, Female, Humans, Male, Middle Aged, Mitochondria, Muscle (metabolism), Mitochondria, Muscle (pathology), Mitochondrial myopathy, Movement Disorders (etiology), Movement Disorders (pathology), Movement Disorders (physiopathology), Muscular Diseases (complications), Myoclonus, Olivopontocerebellar atrophy, Striatonigral degeneration.
- MESH :
- complications : Muscular Diseases.
- etiology : Movement Disorders.
- metabolism : Mitochondria, Muscle.
- pathology : Brain, Mitochondria, Muscle, Movement Disorders.
- physiopathology : Movement Disorders.
- Adult, Aged, Female, Humans, Male, Middle Aged.
Abstract
Of 85 consecutive patients with mitochondrial myopathy, 29 had clinically significant central nervous system involvement. Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system.
Url:
DOI: 10.1002/mds.870050204
Affiliations:
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Scaravilli</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Neuropathology, Institute of Neurology, National Hospital for Nervous Diseases, Queen Square, London</wicri:cityArea></affiliation></author><author><name sortKey="Smith, S J M" sort="Smith, S J M" uniqKey="Smith S" first="S. J. M." last="Smith">S. J. M. Smith</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Clinical Neurophysiology, National Hospital for Nervous Diseases, Queen Square, London</wicri:cityArea></affiliation></author><author><name sortKey="Morgan Ughes, J A" sort="Morgan Ughes, J A" uniqKey="Morgan Ughes J" first="J. A." last="Morgan-Hughes">J. A. 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Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Michigan</li></region></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Truong" sort="Truong" uniqKey="Truong" last="Truong">Truong</name></region><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><name sortKey="Morgan Ughes, J A" sort="Morgan Ughes, J A" uniqKey="Morgan Ughes J" first="J. A." last="Morgan-Hughes">J. A. Morgan-Hughes</name><name sortKey="Scaravilli, F" sort="Scaravilli, F" uniqKey="Scaravilli F" first="F." last="Scaravilli">F. Scaravilli</name><name sortKey="Smith, S J M" sort="Smith, S J M" uniqKey="Smith S" first="S. J. M." last="Smith">S. J. M. Smith</name></country><country name="États-Unis"><region name="Michigan"><name sortKey="Truong" sort="Truong" uniqKey="Truong" last="Truong">Truong</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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