Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

Iskender C., Kartal E., Akcimen F., Kocoglu C., Ozoguz A., Kotan D., ...More

NEUROLOGY-GENETICS, vol.1, no.3, 2015 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 1 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1212/nxg.0000000000000025
  • Journal Name: NEUROLOGY-GENETICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Istanbul University Affiliated: Yes

Abstract

Objective: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hereditary spastic paraplegia (ARHSP).