Spinocerebellar ataxia type 31

General Information (adopted from Orphanet):

Synonyms, Signs: SCA31
SPINOCEREBELLAR ATAXIA, 16q22-LINKED
Number of Symptoms 13
OrphanetNr: 217012
OMIM Id: 117210
ICD-10: G11
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
Elderly
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 3
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007979) Gaze-evoked horizontal nystagmus Frequent [HPO:probinson] 5 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0000407) Sensorineural hearing impairment Occasional [HPO:probinson] 524 / 7739
4
(HPO:0002070) Limb ataxia 41 / 7739
5
(HPO:0001251) Ataxia 413 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0002066) Gait ataxia 327 / 7739
8
(HPO:0003584) Late onset Typical [HPO:probinson] 10 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Cerebellar ataxia, slowly progressive 2 / 7739
11
(HPO:0001272) Cerebellar atrophy 197 / 7739
12
(OMIM) Degeneration of Purkinje cells in the cerebellum 1 / 7739
13
(OMIM) Hearing loss, late-onset sensorineural, mild-to moderate (less common) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nagaoka et al. (2000) reported 6 Japanese families with a pure cerebellar syndrome, referred to as autosomal dominant cerebellar ataxia type III (ADCA III) in the clinical classification by Harding (1982). The average age at onset was 55.9 ...
Molecular genetics OMIM - Exclusion of Mutations in PLEKHG4 As Causative

In affected patients from 52 unrelated Japanese families with a pure form of cerebellar ataxia mapping to chromosome 16q, Ishikawa et al. (2005) identified a heterozygous variation in ...

Population genetics OMIM In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000. Of these, 7.5% were estimated to have pure cerebellar ataxia, with onset after ...