Hereditary spastic paraplegia (HSP): summary of key features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary spastic paraplegia (HSP): summary of key features. This is caused by mutations in the L1CAM gene on chromosome Xq. The transmission is X-linked.
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
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SPG3
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SPG4
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SPG5
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SPG6
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SPG7
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SPG8
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SPG9
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SPG10
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SPG11
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SPG12
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SPG13
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SPG14
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SPG15
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SPG16
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SPG17
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SPG18
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SPG19
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SPG20
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SPG21
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SPG22
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SPG23
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SPG24
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SPG25
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SPG26
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SPG27
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SPG28
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SPG29
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SPG30
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SPG31
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SPG32
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SPG33
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SPG34
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SPG35
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SPG36
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SPG37
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SPG38
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SPG39
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SPG40
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SPG41
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SPG42
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SPG43
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SPG44
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SPG45
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SPG46
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SPG47
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SPG48
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SPG49
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SPG50
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SPG51
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SPG52
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SPG53
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SPG54
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SPG55
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SPG56
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SPG57
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SPG58
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SPG59
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SPG60
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SPG61
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SPG62
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SPG63
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SPG64
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SPG65
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SPG66
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SPG67
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SPG68
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SPG69
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SPG70
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SPG71
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SPG72
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SPG73
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SPG74
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SPG75
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SPG76
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SPG77
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SPG78
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SPG79
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SPG80
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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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