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  • Title: Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.
    Author: Bohlega S, Stigsby B, al-Kawi MZ, McLean DR, Ozand P, Omer S, Coates P.
    Journal: Mov Disord; 1995 Jul; 10(4):513-7. PubMed ID: 7565837.
    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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