hereditary spastic paraplegia 48
Findings
No curated finding names hereditary spastic paraplegia 48 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0013342), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Middle age onset · Progressive
HPO, annotations 2026-09-02
Features
27 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.
- Spastic paraplegiaHPOHP:0001258
- 2 of 2 reported patients
- Thin corpus callosumHPOHP:0033725
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- Abnormality of the cervical spineHPOHP:0003319
- Frequent (30% to 79% of cases)
- AtaxiaHPO
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.
- AP5Z1HGNC:22197
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 48
- Also called
- AP5Z1 hereditary spastic paraplegiaautosomal recessive spastic paraplegia type 48hereditary spastic paraplegia caused by mutation in AP5Z1hereditary spastic paraplegia type 48SPG48