Acta Neuropathologica

, Volume 122, Issue 6, pp 775–781

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

  • Satoshi O. Suzuki
  • Toru Iwaki
  • Kenji Arakawa
  • Hirokazu Furuya
  • Naoki Fujii
  • Akiko Iwaki
Case Report

Abstract

We report an autopsy case of rare adult-onset spastic paraplegia type 2 (SPG2) with a novel missense mutation in exon 7 of the proteolipid protein 1 gene (PLP1). The patient was a 67-year-old man whose elder brother had died of a similar disease with onset in his 40s. Thirty-three years before death at the age of 35, he noticed difficulty in walking. He gradually became abasic over a period of 6 years. He also developed progressive dementia and eventually became bed-ridden by 28 years after onset. At autopsy, gross inspection revealed diffuse, moderate atrophy of the cerebrum with a dilated ventricular system and softening of the white matter throughout the central nervous system (CNS). Histopathologically, the CNS showed widespread myelin pallor in the white matter. By contrast, the gray matter and peripheral nerves were well preserved. Some white matter tracts, including the corticospinal tracts, were preferentially affected, and severe axonal degeneration was observed in these tracts. Genetic analysis revealed a novel mutation, p.Tyr263Cys, in exon 7 of PLP1. This case represents an adult-onset SPG2 patient with one of the oldest ages of onset reported to date. The late onset and long clinical course suggest that this novel mutation does not affect the maturation of oligodendrocytes, but is related to insufficient maintenance of myelin.

Keywords

Proteolipid protein 1 Gene mutation Hereditary spastic paraplegia SPG2 Adult onset 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Satoshi O. Suzuki
    • 1
  • Toru Iwaki
    • 1
  • Kenji Arakawa
    • 2
  • Hirokazu Furuya
    • 2
  • Naoki Fujii
    • 2
  • Akiko Iwaki
    • 3
  1. 1.Department of Neuropathology, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Department of Neurology, Neuro-Muscular CenterNational Ohmuta HospitalFukuokaJapan
  3. 3.Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of BioregulationKyushu UniversityFukuokaJapan

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