neurogenetics

, Volume 10, Issue 4, pp 325–331

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

  • Umut Dursun
  • Cigdem Koroglu
  • Elif Kocasoy Orhan
  • Sibel Aylin Ugur
  • Aslıhan Tolun
Original Article

DOI: 10.1007/s10048-009-0191-3

Cite this article as:
Dursun, U., Koroglu, C., Kocasoy Orhan, E. et al. Neurogenetics (2009) 10: 325. doi:10.1007/s10048-009-0191-3

Abstract

Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs are also genetically heterogeneous. We performed clinical and genetic studies in a consanguineous family with five affected members. A genome scan using 405 microsatellite markers for eight members of the family identified candidate gene loci, and subsequent fine mapping in 16 members identified the gene locus responsible for the HSP. The clinical manifestations were very early onset spastic paraplegia (SPG) accompanied by mental retardation and ocular signs. The gene locus was identified as the interval 102.05–106.64 Mbp on chromosome 10. Gene MRPL43 was analyzed in the patients. No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3–q25.1 with multipoint logarithm of odds scores >4.5.

Keywords

Autosomal recessive spastic paraplegia HSP SPG45 Mental retardation Hereditary spastic paraplegia Chromosome 10q24–25 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Umut Dursun
    • 1
  • Cigdem Koroglu
    • 1
  • Elif Kocasoy Orhan
    • 2
  • Sibel Aylin Ugur
    • 1
  • Aslıhan Tolun
    • 1
  1. 1.Department of Molecular Biology and Genetics, KP 301Boğaziçi UniversityIstanbulTurkey
  2. 2.Department of Neurology, Istanbul Medical SchoolIstanbul UniversityIstanbulTurkey