Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis
JD Schwankhaus, DA Katz, R Eldridge… - Archives of …, 1994 - jamanetwork.com
Objective: To study the clinical and pathological features of a kindred with an adult-onset
autosomal dominant leukodystrophy. Patients: Five symptomatic and nine asymptomatic at-
risk members of the kindred. Interventions: Subjects underwent detailed histories and
general and neurologic examinations. Further evaluation included electroencephalography,
evoked potentials, electromyography, autonomic testing, and analysis of serum, urine, and
cerebrospinal fluid. One patient underwent sural nerve biopsy and analysis. Another …
autosomal dominant leukodystrophy. Patients: Five symptomatic and nine asymptomatic at-
risk members of the kindred. Interventions: Subjects underwent detailed histories and
general and neurologic examinations. Further evaluation included electroencephalography,
evoked potentials, electromyography, autonomic testing, and analysis of serum, urine, and
cerebrospinal fluid. One patient underwent sural nerve biopsy and analysis. Another …