Hereditary Spastic Paraplegia (HSP)

Alias:
Hereditary Spastic Paraparesis
Familial Spastic Paraplegia
Strumpell-Lorrain Disease
Spastic Paraplegia, Hereditary
Strümpell-Lorrain Disease
Hsp
Spg
Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraplegia Hereditary
Spastic Paraplegia, Familial
Hereditary Spastic Paralysis
Strumpell-Lorrain Syndrome
Familial Spastic Paralysis
French Settlement Disease
Hereditary Spastic Ataxia
Spastic Paraparesis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to hereditary spastic paraplegia 35 and spastic paraplegia 2, x-linked, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Hereditary Spastic Paraplegia is SPAST (Spastin). The drugs Pentoxifylline and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and retina, and related phenotypes are nervous system and homeostasis/metabolism
Related ID:
MESH:D015419
ICD11:810807375

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
All ages
1-9/100000
254
1993
178

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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