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


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

ANNALS OF NEUROLOGY, cilt.62, ss.656-665, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 62 Konu: 6
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1002/ana.21310
  • Dergi Adı: ANNALS OF NEUROLOGY
  • Sayfa Sayıları: ss.656-665

Özet

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.