Spinocerebellar ataxia type 36

General Information (adopted from Orphanet):

Synonyms, Signs: SCA36
Number of Symptoms 23
OrphanetNr: 276198
OMIM Id: 614153
ICD-10: G11.8
UMLs:
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:0012473) Tongue atrophy 8 / 7739
2
(HPO:0001308) Tongue fasciculations 18 / 7739
3
(HPO:0000514) Slow saccadic eye movements 21 / 7739
4
(HPO:0007772) Impaired smooth pursuit 21 / 7739
5
(HPO:0001730) Progressive hearing impairment 29 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0002066) Gait ataxia 327 / 7739
8
(HPO:0002311) Incoordination 84 / 7739
9
(HPO:0002380) Fasciculations 42 / 7739
10
(HPO:0001260) Dysarthria 329 / 7739
11
(HPO:0003487) Babinski sign 179 / 7739
12
(HPO:0001347) Hyperreflexia 363 / 7739
13
(HPO:0002070) Limb ataxia 41 / 7739
14
(OMIM) Truncal instability 1 / 7739
15
(OMIM) Distal skeletal muscle atrophy (after long disease duration) 1 / 7739
16
(HPO:0003676) Progressive disorder 148 / 7739
17
(OMIM) Horizontal gaze nystagmus 1 / 7739
18
(HPO:0001272) Cerebellar atrophy 197 / 7739
19
(OMIM) Lower motor neuron involvement after long disease duration 1 / 7739
20
(OMIM) Gaze limitation 1 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Loss of Purkinje cells 3 / 7739
23
(OMIM) Chronic denervation seen on skeletal muscle biopsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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).

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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.

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