Catalog

Pure X-linked spastic paraplegia type 2

No MMS code

Link to WHO Definition

Pure X-linked spastic paraplegia type 2 – http://id.who.int/icd/entity/1371630672

Type of X-linked spastic paraplegia caused by mutation to PLP1 (Proteolipid Protein 1), which is associated with pathways related to endocytosis and glial cell differentiation. Characterized by damage to brain, spinal cord and eye tissues, with symptoms of muscle weakness and hyperreflexia.