Parents

KIF5A is located on chromosome 12 and codes for KIF5A, a subunit of a protein that helps with transport of substances within the cell. Mutations in KIF5A can cause various neurodegenerative disorders, depending on their location. KIF5A is expressed exclusively in neurons and pathogenic variants follow an autosomal dominant pattern of inheritance. Amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, is a neurodegenerative disorder clinically characterised by rapidly progressive muscle weakness and death due to respiratory failure. The median age of disease onset has been estimated to be 46.5 years.

Hereditary Spastic Paraplegia(SPG10/HSP) has variable manifestations from patient to patient, but the most common symptoms include gradual weakness and stiffness of muscles, involuntary spasms, and urinary incontinence. Some of these symptoms are also shared with Charcot-Marie-Tooth disease type 2.