Arylsulphatase A pseudo-deficiency in vascular dementia and Alzheimerʼs disease

• Published in: Neuroreport Vol. 8; no. 11; pp. 2613 - 2616
• Main Authors: Philpot, Michael, Lewis, Keir, Pereria, Maria Luiza, Ward, Chandra, Holmes, Clive, Lovestone, Simon, Fensom, Anthony, Seller, Mary
• Format: Journal Article
• Language: English
• Published: Lippincott-Raven Publishers 28-07-1997
• ISSN: 0959-4965; 1473-558X
• DOI: 10.1097/00001756-199707280-00038

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 Alzheimerʼs 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.