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spastic paraplegia 86, autosomal recessive (SPG86) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 86, autosomal recessive

MONDO:0030673

Also known as:SPG86autosomal recessive spastic paraplegia type 86

Overview

GeneticsAutosomal recessive · ABHD16A (chr 6)

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: Inability to walk, Absent speech, Global developmental delay, and Periventricular white matter hyperintensities and others; and common findings: Babinski sign, Choreoathetosis, and Distal muscle weakness. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Inability to walk, Absent speech, Babinski sign

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.

ABHD16A encodes abhydrolase domain containing 16A, phospholipase (558 aa). Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS).

Spastic paraplegia 86, autosomal recessive is associated with mutations in the ABHD16A gene on chromosome 6.

ABHD16A is classified as a druggable target (Druggable Genome and Phospholipase categories) with score 0.0.

11 pathogenic variants reported in ABHD16A in ClinVar.

Diagnosis

Genetic testing for ABHD16A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic paraplegia 86, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 3 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 spastic paraplegia 86, autosomal recessive.

5 publications have been identified in PubMed for spastic paraplegia 86, autosomal recessive. Research spans Review / Meta-Analysis (40%), Other (20%), and Diagnostic / Biomarker (20%).

Recent Publications

Holla VV (2026). [PMID: 41798181](https://pubmed.ncbi.nlm.nih.gov/41798181/). *Tremor Other Hyperkinet Mov (N Y)*. [Review / Meta-Analysis]
Esener Z (2026). [PMID: 41808431](https://pubmed.ncbi.nlm.nih.gov/41808431/). *Int J Dev Neurosci*. [Review / Meta-Analysis]
Lee EH (2025). [PMID: 40368591](https://pubmed.ncbi.nlm.nih.gov/40368591/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]
Demidov G (2024). [PMID: 39461972](https://pubmed.ncbi.nlm.nih.gov/39461972/). *NPJ Genom Med*. [Other]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619735

Orphanet

European rare disease database

Orphanet:631085

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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spastic paraplegia 86, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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