title: Progressive central and peripheral demyelinating disease of adult onset in a Norwegian family.
abstract: OBJECTIVE
  To describe the clinical features of a Norwegian family with a combined central and peripheral demyelinating disease.
  
  
  METHODS
  Multiple case report.
  
  
  METHODS
  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 co-inheritance 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.
authors.affiliation: Department of Neurology, Trondheim University Hospital, Norway. knut.hagen@medisin.ntnu.no
authors.forename: K
authors.initials: K
authors.lastname: Hagen
authors.forename: H
authors.initials: H
authors.lastname: Boman
authors.forename: S I
authors.initials: SI
authors.lastname: Mellgren
authors.forename: S
authors.initials: S
authors.lastname: Lindal
authors.forename: G
authors.initials: G
authors.lastname: Bovim
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D002493:Central Nervous System Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology; D003711:Demyelinating Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D009664:Norway; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology