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., ...Daha Fazla

NEUROLOGY-GENETICS, cilt.1, sa.3, 2015 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1212/nxg.0000000000000025
  • Dergi Adı: NEUROLOGY-GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • İstanbul Üniversitesi Adresli: Evet

Özet

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).