Article

The de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Turkish casein a case

2025-01-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Hereditary spastic paraplegias (HSPs) are a group of clinically and genetically distinct neurodegenerative diseases characterized by progressive stiffness and lower limb paralysis. There are currently up to 79 loci [spastic paraplegia [SPG]] known to exist. A family with early childhood-onset HSP was reported due to a homozygous mutation in <italic>KIF1A</italic>...

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Literature Corpus work: 0589fe9e-d155-54b5-bd7e-1ac8a4a0678b
DOI: 10.21203/rs.3.rs-5791357/v1

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