hereditary spastic paraplegia 61
Findings
No curated finding names hereditary spastic paraplegia 61 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014304), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent Achilles reflexHPOHP:0003438
- 2 of 2 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients · Childhood onset
- Motor polyneuropathyHPOHP:0007178
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Scissor gaitHPOHP:0012407
- 2 of 2 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARL6IP1HGNC:697
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 61
- Also called
- ARL6IP1 autosomal recessive complex spastic paraplegiaautosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1autosomal recessive spastic paraplegia type 61hereditary spastic paraplegia type 61SPG61