Spinocerebellar Ataxia 31 (SCA31)

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Disease Ontology 12 DOID:0050980 OMIM® 57 117210 OMIM Phenotypic Series 57 PS164400 MeSH 44 D020754 ICD10 via Orphanet 33 G11.8

UMLS via Orphanet 71 C1861736 Orphanet 58 ORPHA217012 MedGen 41 C1861736 SNOMED-CT via HPO 68 103276001 130980003 15188001 221360009 25136009 26079004 263681008 343087000 397790002 405946002 563001 60700002 8011004 85102008 95646004 95828007 more UMLS 70 C1861736

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Epidemiology Spinocerebellar ataxia type 31 (SCA31) is the third most common form of ADCA in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries. Clinical description The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31, and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, hearing difficulties, and blepharospasm Etiology SCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1. Diagnostic methods Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA31 are not specific, diagnosis is only confirmed with the finding of a mutation in the BEAN1 gene Differential diagnosis Differential diagnosis includes other types of ADCA. Genetic counseling SCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring. Management and treatment There is no cure for SCA31 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression. Prognosis Disease progression is very slow. Life expectancy is not reduced but the quality of life can be significantly affected. According to recent reports, patients can become wheelchair bound at age of 79 years, and died at age of 89 years.

MalaCards based summary : Spinocerebellar Ataxia 31, also known as spinocerebellar ataxia type 31, is related to spinocerebellar ataxia 1 and machado-joseph disease, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 31 is BEAN1 (Brain Expressed Associated With NEDD4 1), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has material basis in repeat expansion mutation in the BEAN1 gene.

UniProtKB/Swiss-Prot : ⁷² Spinocerebellar ataxia 31: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.

More information from OMIM: 117210 PS164400

Clinical features from OMIM®:

117210 (Updated 05-Apr-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased West Nile virus (WNV) infection	GR00348-A-3	8.8	BEAN1 CACNA1A NOP56

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 31

Search GEO for disease gene expression data for Spinocerebellar Ataxia 31.