Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

C. Tzoulis; P. S. Denora; F. M. Santorelli; L. A. Bindoff

doi:10.1007/s00415-008-0858-y

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

C. Tzoulis, P. S. Denora, F. M. Santorelli, L. A. Bindoff

Fondazione Stella Maris

Research output: Contribution to journal › Article

Abstract

Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and late in onset.

Original language	English
Pages (from-to)	1142-1144
Number of pages	3
Journal	Journal of Neurology
Volume	255
Issue number	8
DOIs	https://doi.org/10.1007/s00415-008-0858-y
Publication status	Published - Aug 2008

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Keywords

HSP
Paraplegia
Paraplegin
Spastic
SPG7

ASJC Scopus subject areas

Clinical Neurology
Neurology

Cite this

Tzoulis, C., Denora, P. S., Santorelli, F. M., & Bindoff, L. A. (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology, 255(8), 1142-1144. https://doi.org/10.1007/s00415-008-0858-y

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10.1007/s00415-008-0858-y