Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease

被引:10
作者
Philpot, M
Lewis, K
Pereira, ML
Ward, C
Holmes, C
Lovestone, S
Fensom, A
Seller, M
机构
[1] NEWHAM DIST GEN HOSP, DEPT MED, LONDON E13 8RU, ENGLAND
[2] GUYS HOSP, S THAMES REG GENET CTR E, LONDON SE1 9RT, ENGLAND
关键词
arylsulphatase A; dementia; polymorphism;
D O I
10.1097/00001756-199707280-00038
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:2613 / 2616
页数:4
相关论文
共 26 条
  • [1] [Anonymous], 1992, INT CLASS DIS
  • [2] FREQUENCY OF ARYLSULFATASE-A PSEUDODEFICIENCY ASSOCIATED MUTATIONS IN A HEALTHY POPULATION
    BARTH, ML
    WARD, C
    HARRIS, A
    SAAD, A
    FENSOM, A
    [J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (09) : 667 - 671
  • [3] MINI-MENTAL STATE - PRACTICAL METHOD FOR GRADING COGNITIVE STATE OF PATIENTS FOR CLINICIAN
    FOLSTEIN, MF
    FOLSTEIN, SE
    MCHUGH, PR
    [J]. JOURNAL OF PSYCHIATRIC RESEARCH, 1975, 12 (03) : 189 - 198
  • [4] SULFATIDE AS A BIOCHEMICAL MARKER IN CEREBROSPINAL-FLUID OF PATIENTS WITH VASCULAR DEMENTIA
    FREDMAN, P
    WALLIN, A
    BLENNOW, K
    DAVIDSSON, P
    GOTTFRIES, CG
    SVENNERHOLM, L
    [J]. ACTA NEUROLOGICA SCANDINAVICA, 1992, 85 (02): : 103 - 106
  • [5] ARYLSULFATASE-A PSEUDODEFICIENCY - LOSS OF A POLYADENYLYLATION SIGNAL AND N-GLYCOSYLATION SITE
    GIESELMANN, V
    POLTEN, A
    KREYSING, J
    VONFIGURA, K
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (23) : 9436 - 9440
  • [6] CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY
    HAGEMAN, ATM
    GABREELS, FJM
    DEJONG, JGN
    GABREELSFESTEN, AAWM
    VANDENBERG, CJMG
    VANOOST, BA
    WEVERS, RA
    [J]. ARCHIVES OF NEUROLOGY, 1995, 52 (04) : 408 - 413
  • [7] LEUKOCYTE ARYLSULFATASE-A ACTIVITY AND SUBTYPES OF CHRONIC-SCHIZOPHRENIA
    HEAVEY, AM
    PHILPOT, MP
    FENSOM, AH
    JACKSON, M
    CRAMMER, JL
    [J]. ACTA PSYCHIATRICA SCANDINAVICA, 1990, 82 (01) : 55 - 59
  • [8] Apolipoprotein E: Non-cognitive symptoms and cognitive decline in late onset Alzheimer's disease
    Holmes, C
    Levy, R
    McLoughlin, DM
    Powell, JF
    Lovestone, S
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1996, 61 (06) : 580 - 583
  • [9] PSYCHIATRIC DISTURBANCES IN METACHROMATIC LEUKODYSTROPHY - INSIGHTS INTO THE NEUROBIOLOGY OF PSYCHOSIS
    HYDE, TM
    ZIEGLER, JC
    WEINBERGER, DR
    [J]. ARCHIVES OF NEUROLOGY, 1992, 49 (04) : 401 - 406
  • [10] PHENOTYPIC CONSEQUENCES OF LOW ARYLSULFATASE-A GENOTYPES (ASAP/ASAP AND ASA-/ASAP) - DOES THERE EXIST AN ASSOCIATION WITH MULTIPLE-SCLEROSIS
    KAPPLER, J
    POTTER, W
    GIESELMANN, V
    KIESSLING, W
    FRIEDL, W
    PROPPING, P
    [J]. DEVELOPMENTAL NEUROSCIENCE, 1991, 13 (4-5) : 228 - 231