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TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.
Samanci, Bedia; Bilgiç, Basar; Gelisin, Özlem; Tepgeç, Fatih; Guven, Gamze; Tüfekçioglu, Zeynep; Alaylioglu, Merve; Hanagasi, Hasmet A; Gürvit, Hakan; Guerreiro, Rita; Hardy, John; Emre, Murat.
  • Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Bilgiç B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Gelisin Ö; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tepgeç F; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Guven G; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Tüfekçioglu Z; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Alaylioglu M; Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Hanagasi HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Gürvit H; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Guerreiro R; Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.
  • Hardy J; Department of Neurodegenerative Disorders, Institute of Neurology, University College London, London, UK.
  • Emre M; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Eur J Neurol ; 28(8): 2603-2613, 2021 08.
Article in English | MEDLINE | ID: covidwho-1518029
ABSTRACT
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.

METHOD:

Fourteen patients carrying a pathogenic mutation in the TREM2 gene were found in our database. Demographic, clinical, laboratory and radiological data were retrieved and analyzed.

RESULTS:

The presenting clinical picture was behavioral changes with cognitive decline resembling bvFTD in all patients. The mean age was 37.1 ± 4.97 years and the mean duration of the disease was 8.9 ± 3.51 years. Only two patients had typical bone cysts. Seven patients had bilateral calcification of the basal ganglia in computed tomography of the brain. Magnetic resonance imaging of the brain revealed severe atrophy of the corpus callosum, enlargement of the ventricles, atrophy of the caudate nuclei and periventricular white matter changes in all patients. Symmetrical global atrophy of the brain mainly affecting frontoparietal and lateral temporal regions were observed in all cases, and 13 patients had atrophy of the hippocampus. Cerebrospinal fluid examination of 10 patients showed elevated protein levels in six and the presence of oligoclonal bands in four patients.

CONCLUSION:

A combination of white matter changes, enlarged ventricles, atrophy of the caudate nuclei and thinning of the corpus callosum in magnetic resonance imaging strongly suggests NHD in patients with FTD syndrome. Molecular genetic analysis should be performed in suspected cases, and families should receive genetic counseling.
Subject(s)
Keywords

Full text: Available Collection: International databases Database: MEDLINE Main subject: Osteochondrodysplasias / Subacute Sclerosing Panencephalitis / Membrane Glycoproteins / Receptors, Immunologic / Frontotemporal Dementia / Lipodystrophy Type of study: Prognostic study Topics: Long Covid / Variants Limits: Adult / Humans Language: English Journal: Eur J Neurol Journal subject: Neurology Year: 2021 Document Type: Article Affiliation country: Ene.14908

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Osteochondrodysplasias / Subacute Sclerosing Panencephalitis / Membrane Glycoproteins / Receptors, Immunologic / Frontotemporal Dementia / Lipodystrophy Type of study: Prognostic study Topics: Long Covid / Variants Limits: Adult / Humans Language: English Journal: Eur J Neurol Journal subject: Neurology Year: 2021 Document Type: Article Affiliation country: Ene.14908