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Literature DB >> 2370051

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw.

A W Spiegler¹, I Hausmanowa-Pertrusewicz, J Borkowska, A Kłopocka.

Abstract

This study provides epidemiological data on acute infantile (ASMA) and chronic childhood spinal (CSMA) muscular atrophy in Warsaw for the period 1976-1985. All calculations are based on the assumption that ASMA and CSMA result from mutations at two different gene loci. The incidence of ASMA and CSMA was 1 in 19474 live births with a corresponding gene and carrier frequency of 714 x 10(-5) and 1 in 70, respectively. The prevalence of CSMA for the year 1985 was 1.26 x 10(-5). These figures are higher than in similar studies in other countries. This fact might be connected with the careful ascertainment in this study.

Entities: Disease Gene

Mesh：

Year: 1990 PMID： 2370051 DOI： 10.1007/bf00193198

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

21 in total

1. International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data.

Authors: A E Emery; I Hausmanowa-Petrusewicz; A M Davie; S Holloway; R Skinner; J Borkowska
Journal: J Neurol Sci Date: 1976-09 Impact factor: 3.181

2. High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

Authors: K Fried; G Mundel
Journal: Clin Genet Date: 1977-10 Impact factor: 4.438

3. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

Authors: J H Pearn
Journal: J Med Genet Date: 1973-09 Impact factor: 6.318

4. Genetics of childhood spinal muscular atrophy.

Authors: E J Winsor; E G Murphy; M W Thompson; T E Reed
Journal: J Med Genet Date: 1971-06 Impact factor: 6.318

5. Infantile and juvenile spinal muscular atrophy.

Authors: I Hausmanowa-Petrusewicz; W Askanas; B Badurska; B Emeryk; A Fidziańska; W Garbalińska; L Hetnarska; Z Kamieniecka; J Prot; I Niebrój-Dobosz; H Jedrzejowska; E Sawicka
Journal: J Neurol Sci Date: 1968 Mar-Apr Impact factor: 3.181

6. Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy.

Authors: K Zerres; M Stephan; U Kehren; T Grimm
Journal: Clin Genet Date: 1987-04 Impact factor: 4.438

7. Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander.

Authors: K Zerres; T Grimm
Journal: Hum Genet Date: 1983 Impact factor: 4.132

8. Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.

Authors: J Pearn
Journal: J Med Genet Date: 1978-12 Impact factor: 6.318

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw.

1. International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data.

2. High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

3. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

4. Genetics of childhood spinal muscular atrophy.

5. Infantile and juvenile spinal muscular atrophy.

6. Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy.

7. Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander.

8. Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.

9. Segregation analysis of chronic childhood spinal muscular atrophy.

10. Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

1. High incidence of acute infantile spinal atrophy in Hungary.

2. Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

3. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

4. Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study.

Review 5. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.