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Article

Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Mar 2008

Liu Shi Guo, Zhao Jian Jun, Zhuang Mao You, Li Fei Feng, Zhang Qing Jun, Huang Shang Zhi, Che Feng Yuan, Lu De Guo, Liu Shi En, Teng Ji Jun, Ma Xu

Abstract excerpt

Mutations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia (ADHSP). To date, little is known about the relationship between genotype-phenotype correlation. In order to examine the gene mutation associated with the genotype-phenotype of Chinese kindred with ADHSP, linkage analysis and mutation detection were performed. For affected family members, clinical analysis, electrophysiological...

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Source

Identifiers

PMID: 17928003
DOI: 10.1016/j.jns.2007.09.024

Genes

NIPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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