spinocerebellar ataxia type 28
Findings
No curated finding names spinocerebellar ataxia type 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Definition from the Mondo Disease Ontology (MONDO:0012450), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Young adult onset
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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Dysmetric saccadesHPOHP:0000641
- 4 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- 10 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 9 of 11 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Lower limb hypertoniaHPOHP:0006895
- 2 of 5 reported patients
- Kinetic tremorHPOHP:0030186
- Occasional (5% to 29% of cases)
- ParkinsonismHPOHP:0001300
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Very rare (1% to 4% of cases)
- Cognitive impairmentHPOHP:0100543
- Very rare (1% to 4% of cases)
- DepressionHPOHP:0000716
- Very rare (1% to 4% 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.
- AFG3L2HGNC:315
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 28
- Also called
- SCA28