Spinocerebellar ataxia type 36
General Information (adopted from Orphanet):
Synonyms, Signs: |
SCA36 |
Number of Symptoms | 23 |
OrphanetNr: | 276198 |
OMIM Id: |
614153
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ICD-10: |
G11.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0012473) | Tongue atrophy | 8 / 7739 | ||||
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(HPO:0001308) | Tongue fasciculations | 18 / 7739 | ||||
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(HPO:0000514) | Slow saccadic eye movements | 21 / 7739 | ||||
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(HPO:0007772) | Impaired smooth pursuit | 21 / 7739 | ||||
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(HPO:0001730) | Progressive hearing impairment | 29 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 327 / 7739 | ||||
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(HPO:0002311) | Incoordination | 84 / 7739 | ||||
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(HPO:0002380) | Fasciculations | 42 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002070) | Limb ataxia | 41 / 7739 | ||||
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(OMIM) | Truncal instability | 1 / 7739 | ||||
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(OMIM) | Distal skeletal muscle atrophy (after long disease duration) | 1 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(OMIM) | Horizontal gaze nystagmus | 1 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Lower motor neuron involvement after long disease duration | 1 / 7739 | ||||
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(OMIM) | Gaze limitation | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Loss of Purkinje cells | 3 / 7739 | ||||
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(OMIM) | Chronic denervation seen on skeletal muscle biopsy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al,. 2012). ... |
Clinical Description OMIM |
Kobayashi et al. (2011) reported 5 unrelated Japanese families with an autosomal dominant form of spinocerebellar ataxia. The mean age at onset of gait ataxia, truncal instability, dysarthria, and limb incoordination was 52.8 years. An unusual feature for ... |
Molecular genetics OMIM |
By genomewide linkage analysis followed by candidate gene sequencing and repeat analysis of 5 Japanese families with spinocerebellar ataxia-36, Kobayashi et al. (2011) identified a pathogenic heterozygous 6-bp repeat expansion (GGCCTG; dbSNP rs68063608) in intron 1 of the ... |
Population genetics OMIM |
All the patients with SCA36 reported by Kobayashi et al. (2011) were from the Chugoku district in western Japan, and haplotype analysis indicated that the molecular basis for the disease was due to a founder effect. ... |