spinocerebellar ataxia type 14
Findings
No curated finding names spinocerebellar ataxia type 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Definition from the Mondo Disease Ontology (MONDO:0011540), read 2026-09-29. CC BY 4.0.
Features
15 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 ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- Abnormal Achilles tendon morphologyHPOHP:0005109
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- Occasional (5% to 29% of cases)
- Hyporeflexia of lower limbsHPOHP:0002600
- Occasional (5% to 29% of cases)
- MyoclonusHPOHP:0001336
- Occasional (5% to 29% of cases)
- RigidityHPOHP:0002063
- Occasional (5% to 29% of cases)
Show the remaining 3
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- Occasional (5% to 29% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- 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.
- PRKCGHGNC:9402
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 14
- Also called
- SCA14