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Article

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Clinical genetics - 1 Aug 2011

Schlipf N A, Schüle R, Klimpe S, Karle K N, Synofzik M, Schicks J, Riess O, Schöls Ludger, Bauer P

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are...

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Identifiers

PMID: 21623769
DOI: 10.1111/j.1399-0004.2011.01715.x

Genes

SPG7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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