Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

Peter C. Sapp; Betsy A. Hosler; Diane McKenna-Yasek; Wendy Chin; Amity Gann; Hilary Genise; Julie Gorenstein; Michael Huang; Wen Sailer; Meg Scheffler; Marianne Valesky; Jonathan L. Haines; Margaret Pericak-Vance; Teepu Siddique; H. Robert Horvitz; Robert H. Brown

doi:10.1086/377158

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

Peter C. Sapp, Betsy A. Hosler, Diane McKenna-Yasek, Wendy Chin, Amity Gann, Hilary Genise, Julie Gorenstein, Michael Huang, Wen Sailer, Meg Scheffler, Marianne Valesky, Jonathan L. Haines, Margaret Pericak-Vance, Teepu Siddique, H. Robert Horvitz, Robert H. Brown^*

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

117 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in ∼10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ∼25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.

Original language	English (US)
Pages (from-to)	397-403
Number of pages	7
Journal	American journal of human genetics
Volume	73
Issue number	2
DOIs	https://doi.org/10.1086/377158
State	Published - Aug 1 2003

Funding

We are indebted to the patients and their families for their participation in this research. This research was supported by the Angel Fund for ALS Research, Project ALS, the Muscular Dystrophy Association (to D.M.Y., R.H.B., and J.L.H.), the Amyotrophic Lateral Sclerosis Association (to R.H.B.), the Pierre de Bourgknecht ALS Research Foundation (to R.H.B.), National Institutes of Health grants 1PO1NS31248-02 (to R.H.B.) and RO1NS37912 (to R.H.B.), and the Howard Hughes Medical Institute (to H.R.H.). H.R.H. is an Investigator of the Howard Hughes Medical Institute.

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Sapp, P. C., Hosler, B. A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., Gorenstein, J., Huang, M., Sailer, W., Scheffler, M., Valesky, M., Haines, J. L., Pericak-Vance, M., Siddique, T., Horvitz, H. R., & Brown, R. H. (2003). Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. American journal of human genetics, 73(2), 397-403. https://doi.org/10.1086/377158

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title = "Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis",

abstract = "Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in ∼10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ∼25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.",

author = "Sapp, {Peter C.} and Hosler, {Betsy A.} and Diane McKenna-Yasek and Wendy Chin and Amity Gann and Hilary Genise and Julie Gorenstein and Michael Huang and Wen Sailer and Meg Scheffler and Marianne Valesky and Haines, {Jonathan L.} and Margaret Pericak-Vance and Teepu Siddique and Horvitz, {H. Robert} and Brown, {Robert H.}",

note = "Funding Information: We are indebted to the patients and their families for their participation in this research. This research was supported by the Angel Fund for ALS Research, Project ALS, the Muscular Dystrophy Association (to D.M.Y., R.H.B., and J.L.H.), the Amyotrophic Lateral Sclerosis Association (to R.H.B.), the Pierre de Bourgknecht ALS Research Foundation (to R.H.B.), National Institutes of Health grants 1PO1NS31248-02 (to R.H.B.) and RO1NS37912 (to R.H.B.), and the Howard Hughes Medical Institute (to H.R.H.). H.R.H. is an Investigator of the Howard Hughes Medical Institute. ",

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Sapp, PC, Hosler, BA, McKenna-Yasek, D, Chin, W, Gann, A, Genise, H, Gorenstein, J, Huang, M, Sailer, W, Scheffler, M, Valesky, M, Haines, JL, Pericak-Vance, M, Siddique, T, Horvitz, HR & Brown, RH 2003, 'Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis', American journal of human genetics, vol. 73, no. 2, pp. 397-403. https://doi.org/10.1086/377158

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AU - Hosler, Betsy A.

AU - McKenna-Yasek, Diane

AU - Chin, Wendy

AU - Gann, Amity

AU - Genise, Hilary

AU - Gorenstein, Julie

AU - Huang, Michael

AU - Sailer, Wen

AU - Scheffler, Meg

AU - Valesky, Marianne

AU - Haines, Jonathan L.

AU - Pericak-Vance, Margaret

AU - Siddique, Teepu

AU - Horvitz, H. Robert

AU - Brown, Robert H.

N1 - Funding Information: We are indebted to the patients and their families for their participation in this research. This research was supported by the Angel Fund for ALS Research, Project ALS, the Muscular Dystrophy Association (to D.M.Y., R.H.B., and J.L.H.), the Amyotrophic Lateral Sclerosis Association (to R.H.B.), the Pierre de Bourgknecht ALS Research Foundation (to R.H.B.), National Institutes of Health grants 1PO1NS31248-02 (to R.H.B.) and RO1NS37912 (to R.H.B.), and the Howard Hughes Medical Institute (to H.R.H.). H.R.H. is an Investigator of the Howard Hughes Medical Institute.

PY - 2003/8/1

Y1 - 2003/8/1

N2 - Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in ∼10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ∼25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.

AB - Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in ∼10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ∼25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.

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ER -

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

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