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Article

A clinical and genetic study of SPG31 in Japan.

Journal of human genetics - 1 Jul 2022

Hata Takanori, Nan Haitian, Koh Kishin, Ishiura Hiroyuki, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 (REEP1) gene. We analyzed 488 DNA samples from unrelated HSP patients collected by Japan Spastic Paraplegia Research Consortium and found 15 Japanese SPG31 families. We investigated each family and found a total of 25 individuals with REEP1 variants (comprising 22 patients and...

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Identifiers

PMID: 35132160
DOI: 10.1038/s10038-022-01021-4

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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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