PROGRESSIVE CENTRAL AND PERIPHERAL DEMYELINATING DISEASE OF ADULT-ONSET IN A NORWEGIAN FAMILY

Objective: To describe the clinical features of a Norwegian family wit h a combined central and peripheral demyelinating disease. Design: Mul tiple case report. Subjects and Materials: Three generations of a Norw egian family. Medical records were available for all 9 members of the second generation and 5 affected members in the third generation. Resu lts: At least 5 members had clinical features, neuroimaging findings, and electrophysiologic signs indicating a chronic progressive disorder affecting both the central and peripheral nervous systems. The clinic al symptoms developed between the ages of 30 and 70 years in affected family members, who gradually developed sensory loss, muscle deteriora tion, and distal weakness in all extremities, unsteady gait, and dysar thria. Five of 9 persons in the second generation had strokes and expe rienced mental deterioration. The initial stroke episodes were recogni zed between the ages of 54 and 68 years, and death occurred between th e ages of 62 and 75 years. In 7 subjects, cerebrospinal fluid protein levels were increased, and in 5 agar gel electrophoresis indicated blo od-brain barrier dysfunction. Seven family members had neuroimaging si gns of a widespread white matter disorder. In 4 subjects, neurophysiol ogical investigations indicated a polyneuropathy, and in 3 subjects, r esults from a sural nerve biopsy showed a demyelinating neuropathy. Th ere was no evidence of co-inheritance with genetic markers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoen cephalopathy (19p), PMP22 (17q),APP (21q), CMTX1 (Xq), or PLP (Xq). Co nclusions: Progressive central and peripheral demyelinating disease se ems to be a distinct type of hereditary adult-onset demyelinating diso rder affecting both the peripheral and central nervous systems. Its ex act nature remains unknown.