Pure X-linked spastic paraplegia type 2 (Q97735): Difference between revisions

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Latest revision as of 13:51, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1371630672
English	Pure X-linked spastic paraplegia type 2	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.