1. Mutations in this gene are associated with autosomal recessive spastic paraplegia -15. 2. This is the case in Friedreich's ataxia, hereditary spastic paraplegia , and Wilson's disease. 3. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia . 4. Dysfunction of PI4K2A may contribute to tumour growth, spastic paraplegia , Gaucher's disease, or Alzheimer's disease. 5. Together with French physician Maurice Lorrain, the eponymous Str�mpell Lorrain disease is named, which is an hereditary spastic paraplegia . 6. Additionally the loss of its production appears to be one cause of the human neurological disease, Hereditary spastic paraplegia . 7. Those include genes linked to early onset Alzheimer's, spastic paraplegia , NiemannPick disease and a severe form of Usher syndrome. 8. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome. 9. Mutations in the SPG21 ( ACP33 / maspardin ) gene are associated with the mast syndrome, a type of spastic paraplegia . 10. Mutations in the " ATL1 " gene are also a common cause of early-onset hereditary spastic paraplegia ( HSP ) in humans.
Mobile