Spinocerebellar ataxia 3

Common Name(s)

Spinocerebellar ataxia 3, Azorean disease, Spinocerebellar Ataxia Type 3 (SCA 3)

Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia 3" 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 3" 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 3" returned 47 free, full-text research articles on human participants. First 3 results:

Nerve growth factor for the treatment of spinocerebellar ataxia type 3: an open-label study.
 

Author(s): Song Tan, Rui-Hao Wang, Hui-Xia Niu, Chang-He Shi, Cheng-Yuan Mao, Rui Zhang, Bo Song, Shi-Lei Sun, Xin-Jing Liu, Hai-Man Hou, Yu-Tao Liu, Yuan Gao, Hui Fang, Xiang-Dong Kong, Yu-Ming Xu

Journal: Chin. Med. J.. 2015 Feb;128(3):291-4.

 

Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCA worldwide, and runs a slowly progressive and unremitting disease course. There is currently no curable treatment available. Growing evidence has suggested that nerve growth factor (NGF) may have therapeutic effects ...

Last Updated: 31 Jan 2015

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The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.
 

Author(s): Arpita Chatterjee, Saikat Saha, Anirban Chakraborty, Anabela Silva-Fernandes, Santi M Mandal, Andreia Neves-Carvalho, Yongping Liu, Raj K Pandita, Muralidhar L Hegde, Pavana M Hegde, Istvan Boldogh, Tetsuo Ashizawa, Arnulf H Koeppen, Tej K Pandita, Patricia Maciel, Partha S Sarkar, Tapas K Hazra

Journal:

 

DNA strand-breaks (SBs) with non-ligatable ends are generated by ionizing radiation, oxidative stress, various chemotherapeutic agents, and also as base excision repair (BER) intermediates. Several neurological diseases have already been identified as being due to a deficiency in ...

Last Updated: 30 Jan 2015

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.
 

Author(s): Adriana Moro, Renato P Munhoz, Walter O Arruda, Salmo Raskin, Mariana Moscovich, Hélio A G Teive

Journal: Arq Neuropsiquiatr. 2014 Sep;72(9):659-62.

 

Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems.

Last Updated: 25 Sep 2014

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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 3" returned 4 free, full-text review articles on human participants. First 3 results:

Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.
 

Author(s): Melvin M Evers, Lodewijk J A Toonen, Willeke M C van Roon-Mom

Journal: Mol. Neurobiol.. 2014 Jun;49(3):1513-31.

 

Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of transcription. The C-terminus of the ataxin-3 protein contains a polyglutamine (PolyQ) region that, when mutationally expanded to over ...

Last Updated: 7 May 2014

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Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).
 

Author(s): Veronica F Colomer Gould

Journal: Neurotherapeutics. 2012 Apr;9(2):285-96.

 

Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). Seven transgenic mouse models expressing full-length human mutant ataxin-3 ...

Last Updated: 24 Apr 2012

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Machado-Joseph disease/spinocerebellar ataxia type 3.
 

Author(s): Henry Paulson

Journal: Handb Clin Neurol. 2012 ;103():437-49.

 

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion ...

Last Updated: 10 Aug 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Machado-Joseph Disease in Israel
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia 3

 

Last Updated: 19 May 2015

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Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph Disease
 

Status: Recruiting

Condition Summary: Machado-Joseph Disease / Spinocerebellar Ataxia 3

 

Last Updated: 23 Jul 2015

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The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease
 

Status: Recruiting

Condition Summary: Machado Joseph Disease (SCA3)

 

Last Updated: 15 Sep 2014

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