EPIDEMIOLOGY OF SPINAL MUSCULAR ATROPHIES IN A SAMPLE OF THE ITALIAN POPULATION

被引：36
作者：
MOSTACCIUOLO, ML [1 ]
DANIELI, GA [1 ]
TREVISAN, C [1 ]
MULLER, E [1 ]
ANGELINI, C [1 ]
机构：
[1] UNIV PADUA,DEPT NEUROL,I-35100 PADUA,ITALY
来源：
NEUROEPIDEMIOLOGY | 1992年 / 11卷 / 01期
关键词：
SPINAL MUSCULAR ATROPHY; ALLELIC MUTATION; HETEROZYGOTE;
D O I：
10.1159/000110905
中图分类号：
R1 [预防医学、卫生学];
学科分类号：
1004 ; 120402 ;
摘要：
In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960-1983 and involved 859,891 consecutive live-born infants in a population of 2,635.800 inhabitants. The overall prevalence at birth for SMA types I, II and III was 7.8/100,000 live births. Type I alone accounted for 4.1/100,000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 X 10-6 and the frequency of the heterozygotes 1 in 57.
引用
收藏
页码：34 / 38
页数：5
相关论文
共 12 条
  • [1] BRANDT S, 1950, WERDNIGHOFFMANN INFA
  • [2] GENETIC-MAPPING OF CHRONIC CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY TO CHROMOSOME-5Q11.2-13.3
    BRZUSTOWICZ, LM
    LEHNER, T
    CASTILLA, LH
    PENCHASZADEH, GK
    WILHELMSEN, KC
    DANIELS, R
    DAVIES, KE
    LEPPERT, M
    ZITER, F
    WOOD, D
    DUBOWITZ, V
    ZERRES, K
    HAUSMANOWAPETRUSEWICZ, I
    OTT, J
    MUNSAT, TL
    GILLIAM, TC
    [J]. NATURE, 1990, 344 (6266) : 540 - 541
  • [3] KUGELBERG-WELANDER DISEASE - WITH PARTICULAR REFERENCE TO SEX-INFLUENCED MANIFESTATIONS
    FURUKAWA, T
    NAKAO, K
    SUGITA, H
    TSUKAGOSHI, H
    [J]. ARCHIVES OF NEUROLOGY, 1968, 19 (02) : 156 - +
  • [4] CHRONIC PROXIMAL SPINAL MUSCULAR-ATROPHY OF CHILDHOOD AND ADOLESCENCE - SEX INFLUENCE
    HAUSMANOWAPETRUSEWICZ, I
    ZAREMBA, J
    BORKOWSKA, J
    SZIRKOWIEC, W
    [J]. JOURNAL OF MEDICAL GENETICS, 1984, 21 (06) : 447 - 450
  • [5] GENE FOR CHRONIC PROXIMAL SPINAL MUSCULAR ATROPHIES MAPS TO CHROMOSOME-5Q
    MELKI, J
    ABDELHAK, S
    SHETH, P
    BACHELOT, MF
    BURLET, P
    MARCADET, A
    AICARDI, J
    BAROIS, A
    CARRIERE, JP
    FARDEAU, M
    FONTAN, D
    PONSOT, G
    BILLETTE, T
    ANGELINI, C
    BARBOSA, C
    FERRIERE, G
    LANZI, G
    OTTOLINI, A
    BABRON, MC
    COHEN, D
    HANAUER, A
    CLERGETDARPOUX, F
    LATHROP, M
    MUNNICH, A
    FREZAL, J
    [J]. NATURE, 1990, 344 (6268) : 767 - 768
  • [6] INCIDENCE, PREVALENCE, AND GENE FREQUENCY STUDIES OF CHRONIC CHILDHOOD SPINAL MUSCULAR-ATROPHY
    PEARN, J
    [J]. JOURNAL OF MEDICAL GENETICS, 1978, 15 (06) : 409 - 413
  • [7] PEARN J, 1980, LANCET, V1, P919
  • [8] GENE FREQUENCY OF ACUTE WERDNIG-HOFFMANN DISEASE (SMA-TYPE-1) - TOTAL POPULATION SURVEY IN NORTH-EAST-ENGLAND
    PEARN, JH
    [J]. JOURNAL OF MEDICAL GENETICS, 1973, 10 (03) : 260 - 265
  • [9] POPULATION-DATA ON ACUTE INFANTILE AND CHRONIC CHILDHOOD SPINAL MUSCULAR-ATROPHY IN WARSAW
    SPIEGLER, AWJ
    HAUSMANOWAPETRUSEWICZ, I
    BORKOWSKA, J
    KLOPOCKA, A
    [J]. HUMAN GENETICS, 1990, 85 (02) : 211 - 214
  • [10] SWASH M, 1988, NEUROMUSCULAR DISEAS
12