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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
457 |
4. Check minimum number of eventsNone |
457 |
5. Include endpointsNone |
457 |
6. Filter based on genotype QC (FinnGen only) |
457 |
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
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, wide definition
- 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 | 457 | 197 | 260 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 56.48 | 55.24 | 57.42 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 418
- Matched controls
- 4180
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
234.0
202
*
G11.2
ICD-10 Finland
Late-onset cerebellar ataxia
+∞
108.1
99
*
R27.0
ICD-10 Finland
Ataxia, unspecified
242.6
79.3
79
*
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
62.0
58
*
G11.4
ICD-10 Finland
Hereditary spastic paraplegia
+∞
42.4
40
*
Z31.5
ICD-10 Finland
Genetic counselling
9.6
31.7
67
81
N99
ICPC
Neurological disease other
28.8
27.6
37
14
N03AE01
ATC
clonazepam; systemic
7.3
23.4
58
90
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.1
22.7
76
173
N29
ICPC
Neurological sympt/complt other
14.0
21.1
36
28
3342A
ICD-9 Finland
Spinocerebellar disease, Primary cerebellar degeneration
+∞
21.0
20
*
G31.9
ICD-10 Finland
Degenerative disease of nervous system, unspecified
81.0
20.9
23
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.4
20.0
63
133
M03BX01
ATC
baclofen; systemic
12.6
19.7
35
30
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.9
18.7
64
148
TAB00
NOMESCO Finland
Lumbar puncture
8.1
18.5
42
57
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
8.1
17.6
40
54
L28
ICPC
Limited function/disability (L)
3.3
16.9
97
353
R1250
NOMESCO Finland
Evaluation of functional capability
12.3
16.8
30
26
N28
ICPC
Limited function/disability (N)
14.2
16.7
28
21
R26.0
ICD-10 Finland
Ataxic gait
31.5
16.3
21
7
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
8.2
14.9
33
43
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
58.9
14.9
17
*
G11.00
ICD-10 Finland
Cerebellar dysplasia and aplasia
+∞
14.7
14
*
R42
ICD-10 Finland
Dizziness and giddiness
2.7
14.4
119
543
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
23.2
14.3
20
9
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.3
14.3
55
143
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.4
13.9
157
845
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.0
13.2
54
149
G11.18
ICD-10 Finland
Early-onset cerebellar ataxia
+∞
12.6
12
*
N03AX12
ATC
gabapentin; oral
2.8
12.4
85
345
3343A
ICD-9 Finland
Spinocerebellar disease, Other cerebellar ataxia
+∞
11.5
11
*
A28
ICPC
Limited function/disability NOS
2.7
11.4
87
373
SPAT1215
SPAT
Assessment of need for medical rehabilitation
5.9
11.3
31
56
R47.1
ICD-10 Finland
Dysarthria and anarthria
20.7
11.2
16
8
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
7.2
10.2
24
35
G40.9
ICD-10 Finland
Epilepsy, unspecified
5.6
9.9
28
53
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.5
9.5
33
78
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.2
9.5
35
88
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
102.2
9.5
10
*
3349X
ICD-9 Finland
Spinocerebellar disease, unspecified
+∞
9.4
9
*
N18
ICPC
Paralysis/weakness
8.6
9.2
19
23
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.0
9.1
36
97
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.4
8.8
80
376
SPAT1229
SPAT
Assessment of need for aid
3.1
8.6
46
158
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.6
8.5
62
258
7812A
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Abnormality of gait
91.8
8.4
9
*
G72.9
ICD-10 Finland
Myopathy, unspecified
13.1
8.4
14
11
G11.02
ICD-10 Finland
Dysequilibrium syndrome
+∞
8.4
8
*
G11
ICD-10 Finland
Hereditary ataxia
+∞
8.4
8
*
G82.1
ICD-10 Finland
Spastic paraplegia
+∞
8.4
8
*
N06AA09
ATC
amitriptyline; systemic
2.8
8.1
52
201
G04BD04
ATC
oxybutynin; oral, transdermal
3.4
8.0
38
120
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.3
7.9
81
402
XA800
NOMESCO Finland
Neuropsychological investigation
4.1
7.5
28
72
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.4
7.5
35
109
G35
ICD-10 Finland
Multiple sclerosis
7.9
7.5
16
21
N05BA01
ATC
diazepam; systemic, rectal
2.4
7.3
66
307
ABD40
NOMESCO Finland
Implantation of spinal injection device
+∞
7.3
7
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
7.3
7
*
Z3226
NOMESCO Finland
Physiotherapist
2.1
7.3
85
447
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
2.7
7.1
46
180
AA1AD
NOMESCO Finland
CT of head and brain
1.9
7.0
109
644
G04BD07
ATC
tolterodine; oral
3.5
6.9
31
94
R4130
NOMESCO Finland
Speech therapy
5.2
6.9
20
40
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
22.9
6.7
9
*
SPAT1295
SPAT
Other function in accordance with physical therapy nomenclature
3.5
6.7
29
86
N04BB01
ATC
amantadine; oral
8.9
6.6
13
15
R1260
NOMESCO Finland
Evaluation of communicative skills
5.9
6.5
17
30
N04BA02
ATC
levodopa and decarboxylase inhibitor; oral
4.2
6.5
23
57
Z50.1
ICD-10 Finland
Other physical therapy
3.2
6.5
32
105
A06AD11
ATC
lactulose; oral
2.1
6.4
71
365
N06AB04
ATC
citalopram; systemic
2.0
6.3
86
482
G82.2
ICD-10 Finland
Paraplegia, unspecified
27.1
6.2
8
*
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
12.8
6.1
10
8
S82.6
ICD-10 Finland
Fracture of lateral malleolus
3.1
6.1
32
110
N03AF02
ATC
oxcarbazepine; oral
4.3
6.1
21
51
Z2446
NOMESCO Finland
Social worker
2.8
6.1
36
134
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: 3
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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