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autosomal recessive spastic paraplegia type 67 (SPG67) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 67

MONDO:0018419

Also known as:SPG67

Overview

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

ResearchLimited published research (8 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 common findings: Mild intellectual disability, Global developmental delay, Agenesis of corpus callosum, and Overactive reflexes (hyperreflexia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Mild intellectual disability, Global developmental delay, Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 67 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 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 67.

8 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 67. Research spans Diagnostic / Biomarker (38%), Epidemiology / Natural History (25%), and Case Report / Case Series (13%).

Recent Publications

Kessler C (2026). [PMID: 40961460](https://pubmed.ncbi.nlm.nih.gov/40961460/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Diagnostic / Biomarker]
Choi Y (2026). [PMID: 41431411](https://pubmed.ncbi.nlm.nih.gov/41431411/). *Yonsei Med J*. [Epidemiology / Natural History]
Bermejo Ramírez R (2025). [PMID: 39762222](https://pubmed.ncbi.nlm.nih.gov/39762222/). *Hum Genome Var*. [Basic Science / Preclinical]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]
Yuan X (2025). [PMID: 41430681](https://pubmed.ncbi.nlm.nih.gov/41430681/). *BMC Med Genomics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401820

GARD

Genetic and Rare Diseases Info Center

GARD:21698

Questions for Your Care Team

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autosomal recessive spastic paraplegia type 67

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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