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Hereditary spastic paraplegia 2
rareSpastic 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.
- Identifiers
- MONDO:0010733 OMIM:312920Orphanet:99015
- Causal genes
- PLP1
- 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
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