AI Article Synopsis
- The study examines the role of mutations in the TREM2 gene, previously linked to Nasu-Hakola disease, in three unrelated patients diagnosed with the behavioral variant of frontotemporal dementia (bvFTD).
- Each patient was evaluated through various neurological, psychiatric, and cognitive assessments, revealing a correlation between specific TREM2 variants and bvFTD symptoms.
- Although the patients showed some clinical similarities to Nasu-Hakola disease, they exhibited distinct characteristics, including differences in age of onset, neuroimaging results, and disease progression.
Article Abstract
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.
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| http://dx.doi.org/10.5114/fn.2024.140568 | DOI Listing |
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