Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging
| Autor: | Saeed Bohlega, Mohammed Zuheir Al-Kawi, P. Coates, Donald R. McLean, P. Ozand, Bent Stigsby, Omer Sm |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Myoclonus Adolescent Saudi Arabia Chromosome Disorders Genes Recessive Neurological disorder White matter Consanguinity Tremor medicine Humans Spasticity Child Chromosome Aberrations Neurologic Examination Dystonia medicine.diagnostic_test Brain Diseases Metabolic Leukodystrophy Brain Magnetic resonance imaging Myoclonic dystonia medicine.disease Magnetic Resonance Imaging Pedigree nervous system diseases medicine.anatomical_structure Neurology Female Neurology (clinical) medicine.symptom Psychology Neuroscience Follow-Up Studies |
| Zdroj: | Movement Disorders. 10:513-517 |
| ISSN: | 1531-8257 0885-3185 |
| DOI: | 10.1002/mds.870100420 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text