Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr17:44087754 C>A
dbSNP ID: rs63751438
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: CCG to ACG
This was the third mutation discovered at the 301 codon in MAPT. It was identified in a 57-year-old man with a two-year history of cognitive decline, gait disturbances, behavioral changes, apathy, speech difficulties, and falls. Four family members had similar symptoms, but genetic analysis was not possible and segregation could not be assessed (Lladó et al., 2007).
MRI of the proband showed mild global atrophy that was more prominent in the frontal and temporal lobes (Lladó et al., 2007).
- Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL. A novel MAPT mutation (P301T) associated with familial frontotemporal dementia. Eur J Neurol. 2007 Aug;14(8):e9-10. PubMed.