title: Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.
abstract: 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.
authors.affiliation: Section of Old Age Psychiatry, Maudsley Hospital, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Philpot
authors.forename: K
authors.initials: K
authors.lastname: Lewis
authors.forename: M L
authors.initials: ML
authors.lastname: Pereria
authors.forename: C
authors.initials: C
authors.lastname: Ward
authors.forename: C
authors.initials: C
authors.lastname: Holmes
authors.forename: S
authors.initials: S
authors.lastname: Lovestone
authors.forename: A
authors.initials: A
authors.lastname: Fensom
authors.forename: M
authors.initials: M
authors.lastname: Seller
mesh_terms: D000225:Adenine; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D001921:Brain / Q000201:enzymology*; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D015140:Dementia, Vascular / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006147:Guanine; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D005819:Genetic Markers; D006147:Guanine; D002553:Cerebroside-Sulfatase; D000225:Adenine