Article

Clinical and genetic characteristics of CYP2U1-associated hereditary spastic paraplegia in three children from China

2023-10-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background and objective</bold> Hereditary spastic paraplegia (HSP) type 56 (SPG56), caused by mutations in CYP2U1, is a rare type of HSP with an autosomal recessive (AR) mode of inheritance. The onset of SPG56 usually occurs early and displays complex symptoms. To date, less than 27 variants have been reported from 25 families across different countries and regions worldwide. Thi...

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Literature Corpus work: 51c47f63-7ee6-5307-b298-26caf3390e3c
DOI: 10.21203/rs.3.rs-3418885/v1

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