Spinocerebellar Ataxia 29 (SCA29)

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Disease Ontology 12 DOID:0050978 OMIM 56 117360 OMIM Phenotypic Series 56 PS164400 MeSH 43 D020754 ICD10 via Orphanet 33 G11.0

UMLS via Orphanet 72 C1861732 Orphanet 58 ORPHA208513 MedGen 41 C1861732 SNOMED-CT via HPO 68 162294008 193662007 224958001 229721007 23133003 25136009 253175003 263681008 29164008 30721006 32566006 386806002 430099007 563001 62415009 716997004 8011004 95646004 more UMLS 71 C0431399 C1861732

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 208513 Definition An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria , oculomotor abnormalities and intellectual disability . Epidemiology Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More than 50 cases have been reported in the literature to date. Clinical description SCA29 presents at birth, or shortly after, with manifestations including very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay , learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus , dysarthria, dysmetria, and dysdiadochokinesia. Affected patients occasionally present with intention tremor, dystonia , and migraine headaches. Although the disease course is not well established, it appears to range from non-progressive or very slowly progressive ataxia (that does not affect ambulation) to progressively disabling ataxia. A slight improvement in cerebellar signs has been reported in some cases over time. Etiology SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is also the causal gene of SCA15. Diagnostic methods Diagnosis is based on the characteristic clinical findings and molecular genetic testing . As the manifestations of SCA29 are not specific, diagnosis is only confirmed with the finding of a mutation in the ITPR1 gene. Differential diagnosis Differential diagnosis includes other types of autosomal dominant cerebellar ataxia. Antenatal diagnosis Antenatal diagnosis is possible in families with a known mutation. Genetic counseling SCA29 is inherited autosomal dominantly, occasionally autosomal recessively, and genetic counseling is possible. Management and treatment There is no cure for SCA29 and treatment is supportive. Annual neurological examinations are recommended to monitor disease progression. Prognosis Disease progression is very slow, but precise prognosis is unknown. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 29, also known as spinocerebellar ataxia type 29, is related to spinocerebellar ataxia 15 and autosomal dominant cerebellar ataxia, and has symptoms including ataxia, dysdiadochokinesis and action tremor. An important gene associated with Spinocerebellar Ataxia 29 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Integration of energy metabolism and Regulation of actin dynamics for phagocytic cup formation. Affiliated tissues include brain, testes and eye, and related phenotypes are delayed speech and language development and dysarthria

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has material basis in mutation in the ITPR1 gene.

OMIM : ⁵⁶ Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). Heterozygous mutation in the ITPR1 gene also causes SCA15 (606658), which is distinguished by later age at onset and normal cognition. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (117360)

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia 29: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.

Clinical features from OMIM:

117360

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 29

Search GEO for disease gene expression data for Spinocerebellar Ataxia 29.