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Frontotemporal dementia phenotype associated with MAPT gene duplication.
Anne Rovelet-Lecrux1, Didier Hannequin, Olivier Guillin
1Inserm U614, Faculty Medicine, University of Rouen, Rouen, France.
Journal of Alzheimer'S Disease : JAD
|July 17, 2010
Summary
A 17q21.31 microduplication including the MAPT gene was identified in patients with frontotemporal lobar degeneration (FTLD). This finding expands the known genetic causes of FTLD.
Area of Science:
- Genetics
- Neuroscience
Background:
- Microduplications at 17q21.31 have been linked to neurodevelopmental disorders.
- The MAPT gene, crucial for microtubule function, is implicated in frontotemporal lobar degeneration (FTLD).
Observation:
- This study investigated chromosomal rearrangements in FTLD patients.
- A 439-kb microduplication at 17q21.31, encompassing MAPT, IMP5, CRHR1, and STH genes, was identified in a family with FTLD and memory impairment.
Findings:
- The identified microduplication in FTLD patients expands the known genetic landscape of the disease.
- The phenotype in affected individuals aligns with tau pathology patterns observed in animal models.
Implications:
- This discovery suggests 17q21.31 microduplications are a potential cause of FTLD.
- Further research is needed to confirm the exact gene(s) responsible and the precise pathological mechanism.
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