Familial ALS: less common than we think?

[...]some cases may result from de novo mutations, where an ALS-predisposing mutation appears in the sperm, oocyte or early in embryogenesis. [...]one may conclude from this data that FALS resulting from penetrant mutations likely represents no more than 10% of ALS cases.

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Bibliographic Details
Published inJournal of neurology, neurosurgery and psychiatry Vol. 83; no. 12; p. 1133
Main Authors Belzil, Véronique V, Rouleau, Guy A
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.12.2012
BMJ Publishing Group LTD
Subjects
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - classification
Amyotrophic Lateral Sclerosis - genetics
Disease
Family medical history
Female
Genes
Humans
Male
Mutation
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Summary:[...]some cases may result from de novo mutations, where an ALS-predisposing mutation appears in the sperm, oocyte or early in embryogenesis. [...]one may conclude from this data that FALS resulting from penetrant mutations likely represents no more than 10% of ALS cases.
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ArticleID:jnnp-2012-303127
Related-article-href:10.1136/jnnp-2012-302897
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content type line 63
ObjectType-Editorial-2
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ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp-2012-303127