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Article

A Nepalese family with an REEP2 mutation: clinical and genetic study.

Journal of human genetics - 1 Jul 2021

Nan Haitian, Takaki Ryusuke, Hata Takanori, Koh Kishin, Takiyama Yoshihisa

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been identified as a cause of "pure" HSP, SPG72, with both autosomal dominant and autosomal recessive inheritance. We describe a rare Nepalese family with early-onset pure-type...

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Identifiers

PMID: 33526816
DOI: 10.1038/s10038-020-00882-x

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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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