Spinocerebellar Ataxia 15 malady

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OMIM49 606658 Disease Ontology10 DOID:0050965 MedGen34 C1847725, C2676005

MeSH36 D020754 UMLS65 C1847725

NIH Rare Diseases:⁴⁵ Spinocerebellar ataxia 15 (sca15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. the onset of symptoms typically occurs between ages 7 and 66 years. the ability to walk independently is often maintained for many years following onset of symptoms. sca15 is caused by mutations in the itpr1 gene. it is inherited in an autosomal dominant manner. diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. there is no effective treatment known to modify disease progression. patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.  last updated: 1/22/2013

MalaCards based summary: Spinocerebellar Ataxia 15, also known as spinocerebellar ataxia type 15, is related to spinocerebellar ataxia type 16 and autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency, and has symptoms including gaze-evoked horizontal nystagmus, impaired smooth pursuit and postural tremor. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways are G-protein activation and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye, brain and spinal cord, and related mouse phenotypes are behavior/neurological and growth/size/body region.

OMIM:⁴⁹ SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have... (606658) more...

UniProtKB/Swiss-Prot:⁶⁷ Spinocerebellar ataxia 15: Spinocerebellar ataxia is 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. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.

GeneReviews summary for NBK1362

Symptoms by clinical synopsis from OMIM:

606658

Clinical features from OMIM:

606658

Search GEO for disease gene expression data for Spinocerebellar Ataxia 15.