Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey

Akcakaya N. H., Ak B. O., Gonzalez M. A., Zuchner S., Battaloglu E., Parman Y.

NEUROLOGIA I NEUROCHIRURGIA POLSKA, cilt.54, sa.2, ss.176-184, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 54 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5603/pjnns.a2020.0026
  • Dergi Adı: NEUROLOGIA I NEUROCHIRURGIA POLSKA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.176-184
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Objectives. Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. On the other hand, autosomal recessive (AR) cases are also common because of the high frequency of consanguineous marriages in our country. This study aimed to investigate the clinical and genetic aetiology in a group of HSP patients.