Related Experiment Video
Updated: Jul 5, 2026
08:12
High-throughput Screening for Protein-based Inheritance in S. cerevisiae
Published on: August 8, 2017
A novel PSEN2 mutation associated with a peculiar phenotype
Neurology
|April 23, 2008
Summary
A novel presenilin 2 gene mutation (PSEN2 A85V) caused hereditary dementia in an Italian family. This mutation is linked to atypical Alzheimer disease phenotypes and influences Lewy body presence.
Area of Science:
- Neurogenetics
- Molecular Neurology
- Geriatric Medicine
Background:
- Presenilin 2 (PSEN2) gene mutations are infrequent causes of familial Alzheimer disease (AD).
- This study investigates a novel PSEN2 mutation in an Italian family with hereditary dementia.
Purpose of the Study:
- To characterize a novel PSEN2 mutation and its associated phenotype.
- To explore the relationship between PSEN2 mutations and Lewy body pathology in Alzheimer disease.
Main Methods:
- Clinical, genetic, and neuropathological investigations were performed.
- Pedigree analysis and molecular genetic studies identified a novel PSEN2 A85V mutation.
- Neuropathological examination assessed AD hallmarks and Lewy bodies.
Main Results:
- The novel PSEN2 A85V mutation was identified in affected family members, including those with mild cognitive impairment and asymptomatic individuals.
- The proband presented with Lewy body dementia, exhibiting abundant cortical Lewy bodies alongside AD pathology.
- Other affected members displayed typical Alzheimer disease clinical phenotypes.
Conclusions:
- This study expands the spectrum of atypical phenotypes associated with PSEN2 mutations.
- The findings suggest that specific PSEN2 mutations may influence the presence and extent of Lewy bodies in Alzheimer disease.
- These results contribute to understanding the complex nosography of neurodegenerative diseases.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:09Epistasis Analysis
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
00:49Complementation Tests
A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...