Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Stephan Züchner; Gaofeng Wang; Khanh Nhat Tran-Viet; Martha A. Nance; Perry C. Gaskell; Jeffery M. Vance; Allison E. Ashley-Koch; Margaret A. Pericak-Vance

doi:10.1086/505361

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Stephan Züchner, Gaofeng Wang, Khanh Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, Margaret A. Pericak-Vance

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

167 Scopus citations

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

Original language	English (US)
Pages (from-to)	365-369
Number of pages	5
Journal	American journal of human genetics
Volume	79
Issue number	2
DOIs	https://doi.org/10.1086/505361
State	Published - Aug 2006
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. / Züchner, Stephan ; Wang, Gaofeng; Tran-Viet, Khanh Nhat; Nance, Martha A.; Gaskell, Perry C.; Vance, Jeffery M.; Ashley-Koch, Allison E.; Pericak-Vance, Margaret A.

In: American journal of human genetics, Vol. 79, No. 2, 08.2006, p. 365-369.

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

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title = "Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31",

abstract = "Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.",

author = "Stephan Z{\"u}chner and Gaofeng Wang and Tran-Viet, {Khanh Nhat} and Nance, {Martha A.} and Gaskell, {Perry C.} and Vance, {Jeffery M.} and Ashley-Koch, {Allison E.} and Pericak-Vance, {Margaret A.}",

note = "Funding Information: The cooperation of patients and families involved in this study is gratefully acknowledged. This work was supported by the National Institutes of Health (to M.A.P.-V.) and by donations from family members and friends of families with HSP to the Center for Human Genetics. ",

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AU - Gaskell, Perry C.

AU - Vance, Jeffery M.

AU - Ashley-Koch, Allison E.

AU - Pericak-Vance, Margaret A.

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AB - Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

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