hereditary spastic paraplegia 17
Findings
No curated finding names hereditary spastic paraplegia 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010043), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
22 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.
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Impaired distal proprioceptionHPOHP:0006858
- 1 of 1 reported patient
Show the remaining 10
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Hand muscle atrophyHPOHP:0009130
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Abnormal motor nerve conduction velocityHPOHP:0040131
- Occasional (5% to 29% of cases)
- Ankle weaknessHPOHP:0031374
- Occasional (5% to 29% of cases)
- Distal sensory impairmentHPOHP:0002936
- Occasional (5% to 29% 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.
- BSCL2HGNC:15832
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: hereditary spastic paraplegia 17
- Also called
- autosomal dominant spastic paraplegia type 17BSCL2 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in BSCL2hereditary spastic paraplegia type 17Silver spastic paraplegia syndromeSilver syndromespastic paraplegia with amyotrophy of hands and feetspastic paraplegia-amyotrophy of hands and feetSPG17