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autosomal recessive spastic paraplegia type 76 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 76

MONDO:0014827

Also known as:CAPN1 autosomal recessive complex spastic paraplegiaSPG76autosomal recessive complex spastic paraplegia caused by mutation in CAPN1

Overview

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

GeneticsAutosomal recessive · CAPN1 (chr 11)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Gait imbalance, Cerebellar vermis atrophy, and Spastic ataxia and others; and very common findings: Lower limb spasticity, Babinski sign, Lower limb hyperreflexia, and Spastic paraplegia. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Gait ataxia, Ataxia, Gait imbalance

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CAPN1 encodes calpain 1 (714 aa). Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Highest expression in Esophagus Mucosa (363.4 TPM) and Vagina (205.2 TPM).

Autosomal recessive spastic paraplegia type 76 is associated with mutations in the CAPN1 gene on chromosome 11.

CAPN1 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 4.4.

Diagnosis

Genetic testing for CAPN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 4 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive spastic paraplegia type 76.

5 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 76. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Lee MJ (2025). [PMID: 39778570](https://pubmed.ncbi.nlm.nih.gov/39778570/). *J Clin Neurol*. [Case Report / Case Series]
Jeyakumar H (2025). [PMID: 40598191](https://pubmed.ncbi.nlm.nih.gov/40598191/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Lallemant-Dudek P (2025). [PMID: 39704400](https://pubmed.ncbi.nlm.nih.gov/39704400/). *Eur J Neurol*. [Epidemiology / Natural History]
Manini A (2025). [PMID: 40844737](https://pubmed.ncbi.nlm.nih.gov/40844737/). *J Neurol*. [Basic Science / Preclinical]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616907

Orphanet

European rare disease database

Orphanet:488594

GARD

Genetic and Rare Diseases Info Center

GARD:17892

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

autosomal recessive spastic paraplegia type 76

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.

autosomal recessive spastic paraplegia type 76

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.