hereditary spastic paraplegia 35
Findings
No curated finding names hereditary spastic paraplegia 35 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
Definition from the Mondo Disease Ontology (MONDO:0012866), 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
39 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.
- Gait disturbanceHPOHP:0001288
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Juvenile onset
- Very frequent (80% to 99% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% 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.
- FA2HHGNC:21197
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 35
- Also called
- autosomal recessive spastic paraplegia type 35FA2H hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in FA2Hhereditary spastic paraplegia type 35SPG35