Spinocerebellar ataxia type 11

General Information (adopted from Orphanet):

Synonyms, Signs: SCA11
Number of Symptoms 7
OrphanetNr: 98767
OMIM Id: 604432
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:0000639) Nystagmus 555 / 7739
2
(HPO:0002073) Progressive cerebellar ataxia 27 / 7739
3
(HPO:0001260) Dysarthria 329 / 7739
4
(HPO:0001347) Hyperreflexia 363 / 7739
5
(HPO:0001272) Cerebellar atrophy 197 / 7739
6
(HPO:0003581) Adult onset 117 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Worth et al. (1999) identified 2 British families with a relatively pure form of autosomal dominant cerebellar ataxia in which affected individuals did not have the CAG expansion in the CACNA1A gene (601011), excluding a diagnosis of SCA6 ...
Molecular genetics OMIM After screening 54 genes in the linked region identified on chromosome 15q15-q21, none of which had a pathogenic mutation, Houlden et al. (2007) analyzed the gene encoding tau tubulin kinase-2 (TTBK2; 611695) and found a 1-base insertion of ...
Diagnosis GeneReviews Spinocerebellar ataxia type 11 (SCA11) is characterized by the following:...
Clinical Description GeneReviews In the four families described with spinocerebellar ataxia type 11 (SCA11) the mean age of onset ranged from the early teens in the family of Pakistani origin to between 40 and 50 years of age in the families from France and Germany. The ataxia was clinically similar in all four families, presenting with difficulty walking and balance, is slowly progressive with abnormal eye signs (jerky pursuit and horizontal and vertical nystagmus) and pyramidal features. Dysarthria and swallowing difficulties are common in SCA11. The severity ranged from very mild balance problems, usually at disease onset, to severe speech and swallowing problems and ataxia requiring the use of a wheelchair....
Genotype-Phenotype Correlations GeneReviews All four families had frameshift mutations and remarkably similar phenotypes. The same mutation was found in two unrelated families from France and Germany, suggesting that they could be related; this, however, is unlikely as they live more than 600 km apart [Bauer et al 2010]....
Differential Diagnosis GeneReviews According to Harding’s classification, spinocerebellar ataxia type 11 (SCA11) is included in the pure autosomal dominant cerebellar ataxias (ADCA III) [Worth et al 1999], the most common group of inherited ataxias. SCA11 accounts for approximately 2% of ADCA III....
Management GeneReviews To establish the extent of disease and needs in an individual diagnosed with spinocerebellar ataxia type 11 (SCA11), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....