Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

Hehr U., Bauer P., Winner B., Schule R., Olmez A., Koehler W., ...More

ANNALS OF NEUROLOGY, vol.62, no.6, pp.656-665, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 6
  • Publication Date: 2007
  • Doi Number: 10.1002/ana.21310
  • Journal Name: ANNALS OF NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.656-665
  • Hacettepe University Affiliated: Yes

Abstract

Objective: Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One form of autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) was linked to chromosomal region 15q13-21 (SPG11) and associated with mutations in the spatacsin gene. We assessed the long-term course and the mutational spectrum of spatacsin-associated ARHSP with TCC.