Behavioral variant of frontotemporal dementia in carriers 
of biallelic TREM2 variants: cases study

Anna Barczak; Mariusz Berdyński; Tomasz Gabryelewicz; Maria Barcikowska; Beata Borzemska

doi:10.5114/fn.2024.140568

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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abstract:

Original paper

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study

Anna Barczak

¹

,

Mariusz Berdyński

¹

,

Tomasz Gabryelewicz

¹

,

Maria Barcikowska

²

,

Beata Borzemska

^{1, 3}

Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland
Polish Alzheimer’s Association, Warsaw, Poland
Faculty of Physical Education, Gdansk University of Physical Education and Sport, Gdańsk, Poland

Folia Neuropathol 2024; 62:

DOI: https://doi.org/10.5114/fn.2024.140568

Online publish date: 2024/06/13

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Introduction:
First reports associated mutations in triggering receptors expressed on myeloid cells 2 (TREM2) with autosomal recessive Nasu-Hakola disease characterized by painful bone cysts and progressive presenile dementia with psychotic symptoms; however, recent TREM2 biallelic rare variants are suggested to be causative also for the behavioral variant of frontotemporal dementia (bvFTD) without bone involvement.

Material and methods:
Clinical data of three unrelated bvFTD patients carrying TREM2 biallelic variants were evaluated. All patients underwent neurological, psychiatric, and cognitive evaluation and neuroimaging. A full neuropsychological assessment was performed in two cases.

Results:
Two patients carried compound heterozygous TREM2 variants, p.R62C and p.T66M, and one carried the homozygous p.D87N variant. Based on all obtained clinical and neuroimaging data, a behavioral variant of frontotemporal dementia was diagnosed in all cases. Their clinical manifestation was typical with neuropsychiatric and cognitive features, without bone abnormalities.

Conclusions:
Despite all three subjects partially resembling clinical manifestations of Nasu-Hakola disease with TREM2 mutations, we reveal some distinct features, including age of onset, neuroimaging findings, or disease course.

keywords:

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study

Anna Barczak 1 , Mariusz Berdyński 1 , Tomasz Gabryelewicz 1 , Maria Barcikowska 2 , Beata Borzemska 1, 3

neuropsychological assessment, compound heterozygosity, biallelic variants, bvFTD

Anna Barczak

¹

,

Mariusz Berdyński

¹

,

Tomasz Gabryelewicz

¹

,

Maria Barcikowska

²

,

Beata Borzemska

^{1, 3}