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hereditary spastic paraplegia 61 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 61

MONDO:0014304

Also known as:ARL6IP1 autosomal recessive complex spastic paraplegiaSPG61autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1

Overview

A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

GeneticsAutosomal recessive · ARL6IP1 (chr 16)

OnsetCHILDHOOD

ResearchLimited published research (4 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, Sensory neuropathy, and Absent Achilles reflex; and common findings: Hyperactive patellar reflex, Motor polyneuropathy, Scissor gait, and Spasticity and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Inability to walk, Motor polyneuropathy, Scissor gait

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.

ARL6IP1 encodes ARL6 interacting reticulophagy regulator 1 (203 aa). Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Highest expression in Brain Cerebellar Hemisphere (434.0 TPM) and Brain Frontal Cortex BA9 (395.5 TPM).

Hereditary spastic paraplegia 61 is associated with mutations in the ARL6IP1 gene on chromosome 16.

ARL6IP1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ARL6IP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 61 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 8 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 hereditary spastic paraplegia 61.

4 publications have been identified in PubMed for hereditary spastic paraplegia 61. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

Choi Y (2026). [PMID: 41431411](https://pubmed.ncbi.nlm.nih.gov/41431411/). *Yonsei medical journal*. [Case Report / Case Series]
Alawadhi A (2026). [PMID: 42147656](https://pubmed.ncbi.nlm.nih.gov/42147656/). *Cureus*. [Case Report / Case Series]
Jeyakumar H (2025). [PMID: 40598191](https://pubmed.ncbi.nlm.nih.gov/40598191/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Movement disorders : official journal of the Movement Disorder Society*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615685

Orphanet

European rare disease database

Orphanet:401780

GARD

Genetic and Rare Diseases Info Center

GARD:17656

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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hereditary spastic paraplegia 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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