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Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging
Author(s) -
Bohlega S.,
Stigsby B.,
AlKawi M. Z.,
McLean D. R.,
Ozand P.,
Omer S.,
Coates P.
Publication year - 1995
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.870100420
Subject(s) - dystonia , white matter , myoclonus , magnetic resonance imaging , neuroscience , hyperintensity , medicine , central nervous system , myoclonic jerk , basal ganglia , dentate nucleus , psychology , cerebellum , pathology , radiology
We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow‐up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work‐up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.