Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity weakness the lower limbs. It includes four inheritance forms: autosomal dominant (AD), recessive (AR), X-linked inheritance, mitochondrial inheritance. To date, more than 82 gene loci have been found to cause HSP, SPG15 ( ZFYVE26 ) one most common hereditary paraplegias (ARHSPs) thin corpus callosum (TCC), presents early cognitive impairment slowly progressive leg weakness. Here, we reported homozygous pathogenic variant in . A 19-year-old Chinese girl was admitted our hospital presenting 2-year bilateral weakness; impairment; dysplasia; chronic neurogenic injury medulla oblongata supplied muscles; upper limbs on electromyogram (EMG). Based these electrophysiological features, HSP suspected. Exome sequencing family performed high-throughput sequencing, an analysis patient showed NM_015346: c.7111dupA p.(M2371Nfs * 51) mutation. This case new variant, which different from mutation earlier.