Novel mutation in the SPG5A gene associated with autosomal recessive hereditary spastic paraplegia: a case report

Key Points

• The aim is to identify a novel mutation in the CYP7B1 gene linked to hereditary spastic paraplegia.
• Analysis of genetic sequencing in an affected family
• Identification of a novel mutation
• Assessment of clinical symptoms associated with the mutation
• Discovery of a novel mutation in the CYP7B1 gene
• Affected family members show symptoms of autosomal recessive hereditary spastic paraplegia
• Findings contribute to the understanding of genetic factors in spastic paraplegia

Abstract