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The carrier rates of a genetic marker for arylsulphatase A pseudodeficiency (ASA-PD) were determined in three series of patients with vascular dementia (VaD) or Alzheimer's disease (AD). In the first community-based sample, the 1524 + 95A-->G mutation, which is known to be associated with ASA-PD, was present in 35% of VaD cases and none of the AD cases. In a second sample of cases drawn from a Dementia Register, the mutation rates were 18% (VaD) and 16% (AD). Brain DNA from a post-mortem sample revealed the ASA-PD mutation in 60% of VaD cases and 34% of AD cases. These rates are higher than previous studies of culturally similar populations and suggest that ASA-PD may be a risk factor for dementia.

Type

Journal article

Journal

Neuroreport

Publication Date

28/07/1997

Volume

8

Pages

2613 - 2616

Keywords

Adenine, Age of Onset, Aged, Alzheimer Disease, Brain, Cerebroside-Sulfatase, Dementia, Vascular, Female, Gene Frequency, Genetic Markers, Guanine, Humans, Male, Point Mutation, Polymorphism, Genetic, Risk Factors