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Article

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Journal of neurology - 1 Oct 2013

Kumar Kishore R, Blair Nicholas F, Vandebona Himesha, Liang Christina, Ng Karl, Sharpe David M, Grünewald Anne, Gölnitz Uta, Saviouk Viatcheslav, Rolfs Arndt, Klein Christine, Sue Carolyn M

Abstract excerpt

Molecular characterization is important for an accurate diagnosis in hereditary spastic paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of autosomal dominant forms. We performed targeted next generation sequencing (NGS) in a SPAST-negative HSP sample. Forty-four con...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23812641
DOI: 10.1007/s00415-013-7008-x

Genes

SPAST
SPG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23812641-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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