TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features

Samanci B., Bilgic B., Gelisin O., Tepgec F., Guven G., Tufekcioglu Z., ...Daha Fazla

EUROPEAN JOURNAL OF NEUROLOGY, cilt.28, ss.2603-2613, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1111/ene.14908
  • Dergi Adı: EUROPEAN JOURNAL OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.2603-2613
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Background and purpose: Nasu-Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. Behavioral symptoms with cognitive impairment may mimic the behavioral variant of frontotemporal dementia (bvFTD) and other early-onset dementias. Our patients were analyzed and the literature was reviewed to delineate neurological and neuroimaging findings suggestive of NHD.