Spinocerebellar ataxia type 10

General Information (adopted from Orphanet):

Synonyms, Signs: SCA10
Number of Symptoms 26
OrphanetNr: 98761
OMIM Id: 603516
ICD-10: G11

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 4
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

(HPO:0000012) Urinary urgency 35 / 7739
(HPO:0000020) Urinary incontinence 75 / 7739
(HPO:0000496) Abnormality of eye movement 79 / 7739
(HPO:0000639) Nystagmus 555 / 7739
(HPO:0002168) Scanning speech 10 / 7739
(HPO:0002070) Limb ataxia 41 / 7739
(HPO:0002066) Gait ataxia 327 / 7739
(HPO:0001310) Dysmetria 76 / 7739
(HPO:0001250) Seizures 1245 / 7739
(HPO:0000726) Dementia 131 / 7739
(HPO:0000716) Depression 99 / 7739
(HPO:0001347) Hyperreflexia 363 / 7739
(HPO:0002075) Dysdiadochokinesis 40 / 7739
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
(HPO:0002311) Incoordination 84 / 7739
(HPO:0002015) Dysphagia 301 / 7739
(HPO:0100543) Cognitive impairment 230 / 7739
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
(HPO:0002073) Progressive cerebellar ataxia 27 / 7739
(HPO:0001260) Dysarthria 329 / 7739
(HPO:0003829) Incomplete penetrance 85 / 7739
(HPO:0003743) Genetic anticipation 9 / 7739
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
(HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
(HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from ...
Clinical Description OMIM Grewal et al. (1998) described a 4-generation mixed pedigree that segregated a distinct form of SCA. The clinical phenotypes were characterized by predominantly cerebellar symptoms and signs and thus fell within the ADCA III clinical classification. Two affected ...
Genotype-Phenotype Correlations OMIM In a multigenerational study, Matsuura et al. (2004) demonstrated that (1) the expanded ATTCT repeats are highly unstable when paternally transmitted, whereas maternal transmission results in significantly smaller changes in repeat size; (2) blood leukocytes, lymphoblastoid cells, buccal ...
Molecular genetics OMIM In all affected patients from 5 Mexican families with spinocerebellar ataxia-10, Matsuura et al. (2000) found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene (601150.0001).

In affected members of 4 ...

Population genetics OMIM In support of a founder mutation in the Mexican population, Rasmussen and Alonso (2002) noted that many SCA10 affected Mexican families carry a common haplotype, and that the SCA10 mutation accounts for almost 15% of autosomal dominant ataxia ...
Diagnosis GeneReviews The major findings of SCA10 include the following:...
Clinical Description GeneReviews The clinical findings of SCA10 are relatively homogeneous. Ataxia causes progressive disability, and seizures may become life threatening if status epilepticus emerges. Reported age of onset ranges from 12 to 48 years [Matsuura et al 1999, Zu et al 1999, Rasmussen et al 2001, Teive et al 2004]. ...
Genotype-Phenotype Correlations GeneReviews A comparison of clinical data and genotypes in individuals with SCA10 revealed an inverse correlation between expansion size and age of onset (p = 0.018) [Matsuura et al 2000]. The number of repeats ranged from 800 to 4500 and age of onset from 11 to 48 years. The correlation coefficient (r2) was 0.34, suggesting that the ATTCT expansion size can explain only about one third of the variation in age of onset and implying the existence of other determinants of age of onset. A more recent study of Brazilians with SCA10 showed a similar inverse correlation with r2=0.532 and p<0.01 [Teive et al 2004]....
Differential Diagnosis GeneReviews Significant overlap exists in the clinical presentation of the SCAs (see Hereditary Ataxia Overview). All are characterized by ataxia, and some by other neurologic signs. Clinical presentation may vary even among affected members of the same family. SCA type cannot generally be determined by clinical or neuroimaging studies of single individuals....
Management GeneReviews To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 10 (SCA10), 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....