Spinocerebellar ataxia 15

Common Name(s)

Spinocerebellar ataxia 15

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 {11: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}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 15" for support, advocacy or research.

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National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 15" for support, advocacy or research.

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National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

http://www.ataxia.org

Last Updated: 12 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spinocerebellar ataxia 15" returned 2 free, full-text research articles on human participants. First 3 results:

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
 

Author(s): Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, Elsdon Storey, Martin B Delatycki, Danqing Zhu, Morgan K Wei, Garth A Nicholson, R J McKinlay Gardner, Howard R Slater

Journal: Clin. Chem.. 2009 Jul;55(7):1415-8.

 

Spinocerebellar ataxia type 15 (SCA15) is a slowly progressive neurodegenerative disorder characterized by cerebellar ataxia. Mutation of the ITPR1 gene (inositol 1,4,5-triphosphate receptor, type 1) has been identified recently as the underlying cause, and in most cases the molecular ...

Last Updated: 29 Jun 2009

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
 

Author(s): Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton

Journal: PLoS Genet.. 2007 Jun;3(6):e108.

 

We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and ...

Last Updated: 9 Aug 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spinocerebellar ataxia 15" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.