hereditary spastic paraplegia 62
Findings
No curated finding names hereditary spastic paraplegia 62 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Definition from the Mondo Disease Ontology (MONDO:0014302), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal cerebellum morphologyHPOHP:0001317
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 3 reported patients
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.
- ERLIN1HGNC:16947
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: hereditary spastic paraplegia 62
- Also called
- autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1autosomal recessive spastic paraplegia type 62ERLIN1 autosomal recessive pure spastic paraplegiahereditary spastic paraplegia type 62spastic paraplegia 62, autosomal recessiveSPG62