Spinocerebellar Ataxia 15

External Ids:

OMIM 53 606658 Disease Ontology 12 DOID:0050965 MedGen 39 C1847725 C2676005

MeSH 41 D020754 SNOMED-CT via HPO 65 263681008 8011004 95646004 86854008 25136009 250067008 102935005 77420001 56610005 more UMLS 69 C1847725

NIH Rare Diseases : ⁴⁹ 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 sca15, is related to spinocerebellar ataxia type 16 and autosomal dominant cerebellar ataxia, and has symptoms including scanning speech, gait ataxia and dysarthria. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Affiliated tissues include eye, brain and testes, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : ⁵³ SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Heterozygous mutation in the ITPR1 gene can also cause SCA29 (117360), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment. Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by 3,4:Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (606658)

UniProtKB/Swiss-Prot : ⁷¹ 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: NBK1362

Clinical features from OMIM:

606658

Search NIH Clinical Center for Spinocerebellar Ataxia 15

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