Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 2
Definition
Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Also known as hereditary spastic paraplegia caused by mutation in PLP1, hereditary spastic paraplegia type 2, PLP1 hereditary spastic paraplegia, spastic gait type 2, spastic paraparesis type 2, spastic paraplegia 2, X-linked, X-linked recessive, spastic paraplegia type 2, SPG2, X-linked spastic paraplegia type 2 — per MONDO