Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.
| Autor: | Barczak A; Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Berdyński M; Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Gabryelewicz T; Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Barcikowska M; Polish Alzheimer's Association, Warsaw, Poland., Borzemska B; Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.; Faculty of Physical Education, Gdansk University of Physical Education and Sport, Gdańsk, Poland. |
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| Jazyk: | angličtina |
| Zdroj: | Folia neuropathologica [Folia Neuropathol] 2024; Vol. 62 (2), pp. 113-119. |
| DOI: | 10.5114/fn.2024.140568 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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