hereditary ataxia: A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
418 |
4. Check minimum number of eventsNone |
418 |
5. Include endpointsNone |
418 |
6. Filter based on genotype QC (FinnGen only) |
400 |
Control definitions (FinnGen only)
Extra metadata
Similar endpoints
↥List of similar endpoints to
Hereditary ataxia
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4821 | 2073 | 2663 |
| Only index persons | 3377 | 1566 | 1811 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.06 | 0.07 |
| Only index persons | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 55.02 | 56.38 | 53.71 |
| Only index persons | 53.07 | 54.05 | 52.22 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 400 | 170 | 230 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.12 |
| Median age at first event (years) | 56.72 | 55.06 | 57.94 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Mortality – FinRegistry
↥Association
Association between endpoint G6_HERATAXIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.78 [2.33, 3.31] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.092 |
During the follow-up period (1.1.1998 — 31.12.2019), 489 out of 1385 females with G6_HERATAXIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.804 [2.44, 3.23] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.028 |
During the follow-up period (1.1.1998 — 31.12.2019), 747 out of 1691 males with G6_HERATAXIA died.
Mortality risk
Mortality risk for people of age
years, who have G6_HERATAXIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.192% | 0.608% |
| 5 | 1.332% | 3.537% |
| 10 | 3.554% | 8.971% |
| 15 | 6.657% | 16.761% |
| 20 | 11.625% | 27.207% |
Relationships between endpoints
↥Index endpoint: G6_HERATAXIA – Hereditary ataxia
GWS hits: 1
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