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Knut Hagen, MD; Helge Boman, MD, PhD; Svein Ivar Mellgren, MD, PhD; Sigurd Lindal, MD, PhD; Gunnar Bovim, MD, PhD

Arch Neurol. 1998;55:1467-1472.

Objective  To describe the clinical features of a Norwegian family with a combined central and peripheral demyelinating disease.

Design  Multiple case report.

Subjects and Materials  Three generations of a Norwegian family. Medical records were available for all 9 members of the second generation and 5 affected members in the third generation.

Results  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 clinical symptoms developed between the ages of 30 and 70 years in affected family members, who gradually developed sensory loss, muscle deterioration, and distal weakness in all extremities, unsteady gait, and dysarthria. Five of 9 persons in the second generation had strokes and experienced mental deterioration. The initial stroke episodes were recognized between the ages of 54 and 68 years, and death occurred between the ages of 62 and 75 years. In 7 subjects, cerebrospinal fluid protein levels were increased, and in 5 agar gel electrophoresis indicated blood-brain barrier dysfunction. Seven family members had neuroimaging signs of a widespread white matter disorder. In 4 subjects, neurophysiological investigations indicated a polyneuropathy, and in 3 subjects, results from a sural nerve biopsy showed a demyelinating neuropathy. There was no evidence of coinheritance with genetic markers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (19p), PMP22 (17q), APP (21q), CMTX1 (Xq), or PLP (Xq).

Conclusions  Progressive central and peripheral demyelinating disease seems to be a distinct type of hereditary adult-onset demyelinating disorder affecting both the peripheral and central nervous systems. Its exact nature remains unknown.

From the Department of Neurology, Trondheim University Hospital, Trondheim (Drs Hagen and Bovim), the Department of Medical Genetics, Haukeland University Hospital, Bergen (Dr Boman), and the Departments of Neurology (Dr Mellgren) and Pathology (Dr Lindal), Tromsö University Hospital, Tromsö, Norway.

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