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Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies
Author(s) -
Truong Daniel Dung,
Harding A. E.,
Scaravilli F.,
Smith S. J. M.,
MorganHughes J. A.,
Marsden C. D.
Publication year - 1990
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870050204
Subject(s) - mitochondrial myopathy , autopsy , movement disorders , medicine , mitochondrial disease , physical medicine and rehabilitation , pathology , mitochondrial dna , biology , genetics , disease , gene
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.