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Hereditary ataxia

DOID EFO Endpoint Browser PheWeb

G6_HERATAXIA

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.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — G11
  • Hospital discharge: ICD-9 — 334
  • Hospital discharge: ICD-8 — 332
  • Cause of death: ICD-10 — G11
  • Cause of death: ICD-9 — 334
  • Cause of death: ICD-8 — 332

2 out of 7 registries used, show all original rules.

386

4. Check minimum number of events

None

386

5. Include endpoints

None

386

6. Filter based on genotype QC (FinnGen only)

369

Control definitions (FinnGen only)

Control exclude G6_NEUATR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G10-G13
Name in latin Ataxia hereditaria

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-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 369 158 211
Unadjusted period prevalence (%) 0.10 0.07 0.12
Median age at first event (years) 56.31 54.27 57.84

-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

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Relationships between endpoints

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Index endpoint: G6_HERATAXIA – Hereditary ataxia

GWS hits: 1

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