Hereditary spastic paraplegia (HSP): summary of key features
Evidence-based neurology checklist on hereditary spastic paraplegia (hsp): summary of key features: SPG1 This is caused by mutations in the L1CAM gene on chromosome Xq The transmission is X-linked It is part of the CRASH syndrome spectrum SPG2 SPG3 SPG4 SPG5 SPG6 SPG7 SPG8 SPG9 SPG10 SPG11 SPG12…
SPG1
- This is caused by mutations in the L1CAM gene on chromosome Xq
- The transmission is X-linked
- It is part of the CRASH syndrome spectrum
SPG2
SPG3
SPG4
SPG5
SPG6
SPG7
SPG8
SPG9
SPG10
SPG11
SPG12
SPG13
SPG14
SPG15
SPG16
SPG17
SPG18
SPG19
SPG20
SPG21
SPG22
SPG23
SPG24
SPG25
SPG26
SPG27
SPG28
SPG29
SPG30
SPG31
SPG32
SPG33
SPG34
SPG35
SPG36
SPG37
SPG38
SPG39
SPG40
SPG41
SPG42
SPG43
SPG44
SPG45
SPG46
SPG47
SPG48
SPG49
SPG50
SPG51
SPG52
SPG53
SPG54
SPG55
SPG56
SPG57
SPG58
SPG59
SPG60
SPG61
SPG62
SPG63
SPG64
SPG65
SPG66
SPG67
SPG68
SPG69
SPG70
SPG71
SPG72
SPG73
SPG74
SPG75
SPG76
SPG77
SPG78
SPG79
SPG80
References
- Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012; 318:1-18.
- Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
- Hensiek A, Kirker S, Reid E. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J Neurol 2015; 262:1601-1612.
- Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 2014; 261:518-539.
- Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994; 7:402-407.
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