Literature DB >> 6467653

Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

M J Pascalet-Guidon, E Bois, J Feingold, J F Mattei, J C Combes, C Hamon.   

Abstract

A retrospective study of Werdnig-Hoffmann disease (spinal muscular atrophy type I) was undertaken on Reunion Island. Nineteen WH cases born between 1969 and 1980 were recorded belonging to thirteen sibships of the European population of the island. Genealogical analysis, going back to the XVIIth century (1642), showed a relationship among the 13 families, which were derived from a common ancestral pair. A founder effect is the most probable explanation for the concentration of Werdnig-Hoffmann disease in the area.

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Mesh：

Year:  1984        PMID： 6467653     DOI： 10.1111/j.1399-0004.1984.tb00785.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  A hungarian study on Werdnig-Hoffmann disease.

Authors:  A Czeizel; J Hamula
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

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

Authors:  A Thieme; B Mitulla; F Schulze; A W Spiegler
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

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

Authors:  A Thieme; B Mitulla; F Schulze; A W Spiegler
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

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

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123

6.  Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

Authors:  Vincent J Carson; Erik G Puffenberger; Lauren E Bowser; Karlla W Brigatti; Millie Young; Dominika Korulczyk; Ashlin S Rodrigues; KaLynn K Loeven; Kevin A Strauss
Journal:  PLoS One       Date:  2018-09-06       Impact factor: 3.240
  6 in total

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