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

Author:

Samanci Bedia1ORCID,Bilgiç Başar1ORCID,Gelişin Özlem1,Tepgeç Fatih2,Guven Gamze3,Tüfekçioğlu Zeynep1ORCID,Alaylıoğlu Merve4,Hanagasi Hasmet A.1,Gürvit Hakan1ORCID,Guerreiro Rita5,Hardy John6,Emre Murat1

Affiliation:

1. Behavioral Neurology and Movement Disorders Unit Department of Neurology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

2. Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

3. Department of Genetics Aziz Sancar Institute of Experimental MedicineIstanbul University Istanbul Turkey

4. Department of Medical Biology Cerrahpasa Faculty of Medicine Istanbul University‐Cerrahpasa Istanbul Turkey

5. Center for Neurodegenerative Science Van Andel Institute Grand Rapids MI USA

6. Department of Neurodegenerative Disorders Institute of Neurology University College London London UK

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference55 articles.

1. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia;Hakola HP;Acta Psychiatr Scand Suppl,1972

2. A lipid metabolic disease—"membranous lipodystrophy"—an autopsy case demonstrating numerous peculiar membrane‐structures composed of compound lipid in bone and bone marrow and various adipose tissues;Nasu T;Acta Pathol Jpn,1973

3. CNS manifestations of Nasu–Hakola disease: a frontal dementia with bone cysts;Paloneva J;Neurology,2001

4. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype;Paloneva J;Am J Hum Genet,2002

5. Mutations in TREM2 lead to pure early‐onset dementia without bone cysts;Chouery E;Hum Mutat,2008

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