spinocerebellar ataxia type 42
MONDO:0014776Mondo
Findings
No curated finding names spinocerebellar ataxia type 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
38 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.
- AtaxiaHPOHP:0001251
- 15 of 15 reported patients
- Abnormal cerebellum morphologyHPOHP:0001317
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 12 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Neurodevelopmental abnormalityHPOHP:0012759
- Very frequent (80% to 99% of cases)
- Unsteady gaitHPOHP:0002317
- 19 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- 13 of 25 reported patients
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- 4 of 15 reported patients
- Frequent (30% to 79% of cases)
- Eyelid myokymiaHPOHP:0031166
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
Show the remaining 26
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- Frequent (30% to 79% of cases)
- Impaired vibration sensation at anklesHPOHP:0006938
- 6 of 13 reported patients
- Frequent (30% to 79% of cases)
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 6 of 15 reported patients
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- 4 of 13 reported patients
- Frequent (30% to 79% of cases)
- Urinary urgencyHPOHP:0000012
- 4 of 14 reported patients
- Frequent (30% to 79% of cases)
- Alzheimer diseaseHPO
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.
- CACNA1GHGNC:1394
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: spinocerebellar ataxia type 42
- Also called
- SCA42spinocerebellar ataxia 42