Familial ALS: less common than we think?

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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Bibliographische Detailangaben
Veröffentlicht in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2012-12, Vol.83 (12), p.1133-1133
Hauptverfasser: Belzil, Véronique V, Rouleau, Guy A
Format: Artikel
Sprache:eng
Schlagworte:
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - classification
Amyotrophic Lateral Sclerosis - genetics
Disease
Family medical history
Female
Genes
Humans
Male
Mutation
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Beschreibung
Zusammenfassung:[...]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.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp-2012-303127