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Pure progressive amnesia and the APPV717G mutation.

William D Knight¹, R Laila Ahsan, Jessica Jackson

¹Department of Neurodegenerative Diseases, Dementia Research Centre, Institute of Neurology, University College London, UK. knight@dementia.ion.ucl.ac.uk

Alzheimer Disease and Associated Disorders

|December 2, 2009

Summary

This study details a rare, slow-progressing memory loss in a familial Alzheimer disease (AD) patient with an APP gene mutation. Despite severe memory decline, other cognitive functions remained intact, showing unique AD progression.

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Area of Science:

Neuroscience
Genetics
Neurology

Background:

Familial Alzheimer disease (AD) is an inherited form of dementia, often presenting with early-onset symptoms.
Mutations in the amyloid precursor protein (APP) gene, such as V717G, are linked to autosomal dominant forms of AD.
Understanding diverse clinical phenotypes in familial AD is crucial for diagnosis and management.

Observation:

A 59-year-old patient from an autosomal dominant familial AD family presented with a pure amnestic phenotype.
Subjective memory decline began at age 44, progressing over 14 years to severe global memory impairment.
Cognitive assessment revealed preservation of non-memory cognitive domains.

Findings:

The patient's V717G APP gene mutation was identified as the cause of early-onset AD within the family.
Longitudinal data confirmed a slowly progressive, isolated amnestic syndrome.
Volumetric MRI showed an intermediate hippocampal atrophy rate compared to controls and sporadic AD.

Implications:

This case highlights a distinct, isolated amnestic presentation of familial AD, expanding the known phenotypic spectrum.
The findings suggest that specific APP mutations can lead to unique patterns of cognitive decline in AD.
Further research into genotype-phenotype correlations in familial AD is warranted to refine diagnostic and therapeutic strategies.