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Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging

✍ Scribed by Dr. S. Bohlega; B. Stigsby; M. Z. Al-Kawi; D. R. McLean; P. Ozand; S. Omer; P. Coates


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
496 KB
Volume
10
Category
Article
ISSN
0885-3185

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✦ Synopsis


Abstract

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.


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