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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
Semantic information from SemMedBD (by NLM)
1. TREM2 protei CAUSES C0332149
Subject
TREM2 protei
Predicate
CAUSES
Object
C0332149
2. Neuroimaging DIAGNOSES POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Subject
Neuroimaging
Predicate
DIAGNOSES
Object
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
3. Behavioral variant of frontotemporal dementia PROCESS_OF Patients
Subject
Behavioral variant of frontotemporal dementia
Predicate
PROCESS_OF
Object
Patients
4. Brain LOCATION_OF X-Ray Computed Tomography
Subject
Brain
Predicate
LOCATION_OF
Object
X-Ray Computed Tomography
5. Magnetic Resonance Imaging DIAGNOSES Atrophic
Subject
Magnetic Resonance Imaging
Predicate
DIAGNOSES
Object
Atrophic
6. Heart Ventricle LOCATION_OF Hypertrophy
Subject
Heart Ventricle
Predicate
LOCATION_OF
Object
Hypertrophy
7. Corpus Callosum LOCATION_OF Atrophic
Subject
Corpus Callosum
Predicate
LOCATION_OF
Object
Atrophic
8. Brain LOCATION_OF Magnetic Resonance Imaging
Subject
Brain
Predicate
LOCATION_OF
Object
Magnetic Resonance Imaging
9. Periventricular white matter changes PROCESS_OF Patients
Subject
Periventricular white matter changes
Predicate
PROCESS_OF
Object
Patients
10. Atrophic PROCESS_OF Patients
Subject
Atrophic
Predicate
PROCESS_OF
Object
Patients
11. Brain LOCATION_OF Optic Atrophy
Subject
Brain
Predicate
LOCATION_OF
Object
Optic Atrophy
12. Toxic Epidermal Necrolysis PROCESS_OF Patients
Subject
Toxic Epidermal Necrolysis
Predicate
PROCESS_OF
Object
Patients
13. Cerebrospinal fluid examination DIAGNOSES protein elevated
Subject
Cerebrospinal fluid examination
Predicate
DIAGNOSES
Object
protein elevated
14. Present PROCESS_OF Patients
Subject
Present
Predicate
PROCESS_OF
Object
Patients
15. Syndrome PROCESS_OF Patients
Subject
Syndrome
Predicate
PROCESS_OF
Object
Patients
16. POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PROCESS_OF Patients
Subject
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Predicate
PROCESS_OF
Object
Patients
17. Atrophic COEXISTS_WITH White matter changes
Subject
Atrophic
Predicate
COEXISTS_WITH
Object
White matter changes
18. Genetic Counseling ADMINISTERED_TO Family
Subject
Genetic Counseling
Predicate
ADMINISTERED_TO
Object
Family
19. TREM2 protein, human|TREM2 CAUSES Possible
Subject
TREM2 protein, human|TREM2
Predicate
CAUSES
Object
Possible
20. Neuroimaging DIAGNOSES POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Subject
Neuroimaging
Predicate
DIAGNOSES
Object
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
21. Behavioral variant of frontotemporal dementia PROCESS_OF Patients
Subject
Behavioral variant of frontotemporal dementia
Predicate
PROCESS_OF
Object
Patients
22. Brain LOCATION_OF X-Ray Computed Tomography
Subject
Brain
Predicate
LOCATION_OF
Object
X-Ray Computed Tomography
23. Magnetic Resonance Imaging DIAGNOSES Atrophic
Subject
Magnetic Resonance Imaging
Predicate
DIAGNOSES
Object
Atrophic
24. Heart Ventricle LOCATION_OF Hypertrophy
Subject
Heart Ventricle
Predicate
LOCATION_OF
Object
Hypertrophy
25. Corpus Callosum LOCATION_OF Atrophic
Subject
Corpus Callosum
Predicate
LOCATION_OF
Object
Atrophic
26. Brain LOCATION_OF Magnetic Resonance Imaging
Subject
Brain
Predicate
LOCATION_OF
Object
Magnetic Resonance Imaging
27. Periventricular white matter changes PROCESS_OF Patients
Subject
Periventricular white matter changes
Predicate
PROCESS_OF
Object
Patients
28. Atrophic PROCESS_OF Patients
Subject
Atrophic
Predicate
PROCESS_OF
Object
Patients
29. Brain LOCATION_OF Optic Atrophy
Subject
Brain
Predicate
LOCATION_OF
Object
Optic Atrophy
30. Toxic Epidermal Necrolysis PROCESS_OF Patients
Subject
Toxic Epidermal Necrolysis
Predicate
PROCESS_OF
Object
Patients
31. Cerebrospinal fluid examination DIAGNOSES protein elevated
Subject
Cerebrospinal fluid examination
Predicate
DIAGNOSES
Object
protein elevated
32. Present PROCESS_OF Patients
Subject
Present
Predicate
PROCESS_OF
Object
Patients
33. Syndrome PROCESS_OF Patients
Subject
Syndrome
Predicate
PROCESS_OF
Object
Patients
34. POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PROCESS_OF Patients
Subject
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Predicate
PROCESS_OF
Object
Patients
35. Atrophic COEXISTS_WITH White matter changes
Subject
Atrophic
Predicate
COEXISTS_WITH
Object
White matter changes
36. Genetic Counseling ADMINISTERED_TO Family
Subject
Genetic Counseling
Predicate
ADMINISTERED_TO
Object
Family
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 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 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