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Article

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

Clinical neurology and neurosurgery - 1 Jul 2011

Du Juan, Hu Ya-Cen, Tang Bei-Sha, Chen Chong, Luo Ying-Ying, Zhan Zi-Xiong, Zhao Guo-Hua, Jiang Hong, Xia Kun, Shen Lu

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed "pure" spastic paraplegia. OBJECTIVES: To analyze the genotype/phenotype correlation of mutations so far described in NIPA1. METHODS: Eighty-six Chinese Han HSP patients were investigated for SPG6 mutations by direct sequencing of...

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Source

Identifiers

PMID: 21419568
DOI: 10.1016/j.clineuro.2011.02.011

Genes

NIPA1

Variants

Provenance

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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