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Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994
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Article Abstract
Cerebellar and pyramidal dysfunction began in the fourth and fifth decades of life;subtle autonomic symptoms were often present years earlier.Frontal lobe dysfunction and abnormalities of the central visual pathways were mild and of late onset.Sensorineural hearing loss was common.The peripheral nervous system was spared.Autopsy results of one patient revealed severe degeneration of the white matter at all levels of the neuroaxis,but most prominent in the frontoparietal and cerebellar regions, with sparing of the subcortical U fibers.Histological and ultrastructural examinations failed to show evidence of a specific pathogenic mechanism or etiology.This disorder seems to be a distinct type of hereditary leukodystrophy,but its exact nature remains unknown.
 
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autonomic dysfunction
familial
genetic neurologic disorders
leukodystrophy
misdiagnosis
multiple sclerosis,differential diagnosis of
multiple sclerosis,misdiagnosis
neuropathology
sensorineural hearing loss

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