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Article

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Orphanet journal of rare diseases - 16 Nov 2015

Jahic Amir, Khundadze Mukhran, Jaenisch Nadine, Schüle Rebecca, Klimpe Sven, Klebe Stephan, Frahm Christiane, Kassubek Jan, Stevanin Giovanni, Schöls Ludger, Brice Alexis, Hübner Christian A, Beetz Christian

Abstract excerpt

BACKGROUND: The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires an understanding of the mechanism by which mutations confer pathogenicity. SPG8 is a dominantly inherited HSP, and associated with rather early onset and rapid progression. A total of nine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26572744
DOI: 10.1186/s13023-015-0359-x
PMCID: PMC4647479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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