Disease Directory Hereditary Spastic Paraplegia
Neurological

Hereditary Spastic Paraplegia

Also known as: HSP, Strümpell-Lorrain disease, familial spastic paraplegia, SPG subtypes

Prevalence

1-9 per 100,000 (Orphanet)

Onset

Childhood, Adult

Type

Autosomal dominant, autosomal recessive, or X-linked genetic

Gene

SPAST (SPG4), ATL1 (SPG3), REEP1 (SPG31), SPG11, CYP7B1

About Hereditary Spastic Paraplegia

Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders unified by progressive lower limb spasticity due to corticospinal tract degeneration. Over 80 genetic subtypes (SPG1-SPG86+) have been identified. Pure HSP involves spasticity and mild proprioceptive sensory loss; complicated HSP includes additional features such as intellectual disability, cerebellar ataxia, peripheral neuropathy, or thin corpus callosum. SPG4 (SPAST) is the most common, accounting for ~40% of autosomal dominant HSP.

Common Clinical Features

Progressive lower limb spasticity Gait difficulty and scissor gait Urinary urgency and incontinence Mild lower limb weakness Distal muscle wasting (complicated forms) Cerebellar signs (complicated forms) Peripheral neuropathy (complicated forms)

Clinical Trial Eligibility Tips

What to know before applying to Hereditary Spastic Paraplegia trials.

HSP subtype must be genetically confirmed — SPG4 (SPAST) trials differ from SPG11 or CYP7B1 trials

Spastic Paraplegia Rating Scale (SPRS) is the primary outcome measure — baseline score should be documented

Spasticity assessments (Modified Ashworth Scale) and gait analysis are standard baseline eligibility measures

Complicated HSP subtypes (SPG11, SPG15) may qualify for leukodystrophy or thin corpus callosum trials as well

Patient Resources

Patient Organization

Spastic Paraplegia Foundation

Visit website ↗

Natural History Registry

SPF Patient Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:685)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hereditary Spastic Paraplegia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hereditary Spastic Paraplegia. Updated daily.

Related Rare Diseases