Spinocerebellar ataxia type 26

General Information (adopted from Orphanet):

Synonyms, Signs: SCA26
Number of Symptoms 17
OrphanetNr: 101112
OMIM Id: 609306
ICD-10: G11
UMLs: C1836395
MeSH: C537203
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 3
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000641) Dysmetric saccades 10 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0000496) Abnormality of eye movement 79 / 7739
4
(HPO:0000617) Abnormality of ocular smooth pursuit 6 / 7739
5
(HPO:0001151) Impaired horizontal smooth pursuit 7 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0002311) Incoordination 84 / 7739
8
(HPO:0002078) Truncal ataxia 41 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0002066) Gait ataxia 327 / 7739
11
(HPO:0002070) Limb ataxia 41 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(HPO:0003677) Slow progression 134 / 7739
14
(OMIM) Loss of Purkinje cells in the cerebellum 1 / 7739
15
(HPO:0003581) Adult onset 117 / 7739
16
(HPO:0001272) Cerebellar atrophy 197 / 7739
17
(OMIM) Impaired vertical visual pursuit 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yu et al. (2005) reported a 6-generation family with autosomal dominant pure spinocerebellar ataxia. The proband presented at age 40 years with a 13-year history of slowly progressive gait ataxia, upper limb ataxia, and dysarthria. Family history revealed ...
Molecular genetics OMIM In affected members of a family of Norwegian origin with autosomal dominant late-onset spinocerebellar ataxia-26, previously reported by Yu et al. (2005), Hekman et al. (2012) identified a heterozygous mutation in the EEF2 gene (P596H; 130610.0001). Detailed studies ...