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Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case
Christian Espinoza-Vinces1, María Victoria Zelaya Huerta2,3, Valle Coca Pueyo3
1Department of Neurology, Clínica Universidad de Navarra, Pamplona, Spain.
This case study highlights a rare genetic frontotemporal dementia (FTD) linked to an SQSTM1 gene mutation, presenting with memory loss and parkinsonism. It broadens understanding of FTD
Area of Science:
- Neuroscience
- Genetics
- Neuropathology
Background:
- Frontotemporal dementia (FTD) is a neurodegenerative disorder often presenting with behavioral or language changes.
- Paget disease of bone (PDB) is a chronic disorder affecting bone remodeling.
- SQSTM1 gene mutations are associated with FTD and Paget disease of bone.
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