adult-onset demyelinating leukodystrophy

adult-onset demyelinating leukodystrophy
a progressive, autosomal dominant leukoencephalopathy caused by a tandem repeat at gene locus 5q23.3-q31.1 that results in an extra copy of the lamin B1 gene, characterized by degeneration of the white matter, beginning at the frontal lobes and extending to the centrum semiovale and cerebellum. Symptoms first appear in the fourth or fifth decade and include motor disturbances, bowel and bladder incontinence, and orthostatic hypotension; mental acuity is often retained. Death occurs about 20 years after the appearance of symptoms.

Medical dictionary. 2011.

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