disease 2,618 words KG: ent-dise-0c756575
Contents

hereditary-spastic-paraplegia

Disease Info
Prevalence1.2–9.6 per 100,000 depending on population and ascertainment methods. Estimated global incidence rate of 3.6 per 100,000.
Autosomal dominant (AD-HSP)75–80% of registered cases in European populations
Autosomal recessive (AR-HSP)More common in consanguineous populations (North Africa, Middle East, South Asia)
X-linkedRare (<5%)
De novo mutationsIncreasingly recognized with expanded genetic-testing
Age at onsetHighly variable — from infancy to the 7th decade. Bimodal distribution with peaks in the 1st decade (childhood-onset forms) and 3rd–4th decades (adult-onset forms).
Most common subtypesSPG4 (40–45% of AD-HSP), SPG3A (~10% of AD-HSP), SPG11 (18% globally, most common AR-HSP).
Pure HSPMost commonly associated with SPG4, SPG3A, SPG31, SPG6
Complex HSP with thin corpus callosumSPG11, SPG15, SPG47-50
HSP with cerebellar ataxiaSPG7, SPG46
HSP with peripheral neuropathySPG3A, SPG10, SPG30
HSP with cognitive impairmentSPG11, SPG15, SPG21, SPG47-50
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph