Mutations

PSEN1 L113P

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.23023T>C
Genomic Mutation Name (NT1): g.39577T>C
dbSNP ID: rs63751399
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: CTA to CCA

Findings

This mutation was identified in a French family known as “SAL 513”. The reported pedigree consisted of six family members affected by early-onset dementia across four generations. The inheritance pattern was consistent with autosomal dominant inheritance. Ages of onset were 38, 39, 40, 45, and 50 years for the five family members for which data was reported. The disease manifested with behavioral impairments including impulsiveness and stereotyped behavior, as well as changes in mood and personality, and loss of personal and social awareness. Myoclonic jerks and seizures appeared later. Three affected members of the family fulfilled the Lund and Manchester criteria for frontotemporal dementia (Lund and Manchester Group, 1994) and consensus criteria for FTD (Neary et al., 1998).

The mutation was detected in the two affected family members screened and absent in a healthy 67-year old sister of the proband, supporting segregation of the mutation with disease (Raux et al., 2000).

Neuropathology

Unknown, but neuroimaging data from two patients was consistent with FTD, namely CT scans showed predominant frontotemporal atrophy and SPECT showed hypoperfusion including the frontal lobes (Raux et al., 2000).

Biological Effect

Unknown.

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References

Paper Citations

  1. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry. 1994 Apr;57(4):416-8. PubMed.
  2. . Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998 Dec;51(6):1546-54. PubMed.
  3. . Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 2000 Nov 28;55(10):1577-8. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 2000 Nov 28;55(10):1577-8. PubMed.

Other mutations at this position

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