Spinocerebellar ataxia type 4

General Information (adopted from Orphanet):

Synonyms, Signs: SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY
SCA4
Number of Symptoms 12
OrphanetNr: 98765
OMIM Id: 600223
ICD-10: G11
UMLs: C0752122
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
2
 (HPO:0003487) Babinski sign 179 / 7739
3
 (HPO:0002936) Distal sensory impairment 96 / 7739
4
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
5
 (HPO:0000763) Sensory neuropathy 78 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0001265) Hyporeflexia 208 / 7739
8
 (HPO:0002406) Limb dysmetria 5 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (OMIM) Absent or reduced sural nerve sensory responses 1 / 7739
11
 (HPO:0001272) Cerebellar atrophy 197 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gardner et al. (1994) described a large Utah kindred with a distinct form of autosomal dominant spinocerebellar ataxia. Flanigan et al. (1996) presented clinical and electrophysiologic data of the family reported by Gardner et al. (1994). The phenotype ...
Molecular genetics OMIM - Exclusion Studies

Edener et al. (2011) excluded a pathogenic pentanucleotide repeat in the BEAN gene, which causes SCA31, as a cause of SCA4 in the family reported by Hellenbroich et al. (2003), indicating that SCA4 ...