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

Samanci, Bedia; Bilgic, Basar; Gelisin, Ozlem; Tepgec, Fatih; Guven, Gamze; Tufekcioglu, Zeynep; ALAYLIOĞLU, MERVE; Hanagasi, Hasmet; GÜRVİT, İbrahim; Guerreiro, Rita; Hardy, John; Demir, Murat

doi:10.1111/ene.14908

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)

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.