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.

Logo
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 63 free, full-text research articles on human participants. First 3 results:

Human Olfactory Ensheathing Cell Transplantation Improves Motor Function in a Mouse Model of Type 3 Spinocerebellar Ataxia.
 

Author(s): Jeanne Hsieh, Jen-Wei Liu, Horng-Jyh Harn, Kuo-Wei Hsueh, Karthyayani Rajamani, Yu-Chen Deng, Chih-Min Chia, Woei-Cheang Shyu, Shinn-Zong Lin, Tzyy-Wen Chiou

Journal: Cell Transplant. 2017 Oct;26(10):1611-1621.

 

Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that affects the cerebellum and spinal cord. Among the 40 types of SCA, SCA type 3 (SCA3), also referred to as Machado-Joseph disease, is the most common. In the present study, we investigated the therapeutic ...

Last Updated: 31 Dec 1969

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Generation of induced pluripotent stem cells from a patient with spinocerebellar ataxia type 3.
 

Author(s): Bing-Wen Soong, Shih-Han Syu, Cheng-Hao Wen, Hui-Wen Ko, Mei-Ling Wu, Patrick C H Hsieh, Shiaw-Min Hwang, Huai-En Lu

Journal: Stem Cell Res. 2017 01;18():29-32.

 

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent ...

Last Updated: 31 Dec 1969

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Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.
 

Author(s): Joanna R Sutton, Jessica R Blount, Kozeta Libohova, Wei-Ling Tsou, Gnanada S Joshi, Henry L Paulson, Maria do Carmo Costa, K Matthew Scaglione, Sokol V Todi

Journal: Hum. Mol. Genet.. 2017 04;26(8):1419-1431.

 

Polyglutamine (polyQ) repeat expansion in the deubiquitinase ataxin-3 causes neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inherited, incurable diseases caused by similar mutations. Ataxin-3's degradation is inhibited by its binding to the proteasome shuttle ...

Last Updated: 31 Dec 1969

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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 5 free, full-text review articles on human participants. First 3 results:

Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.
 

Author(s): Hélio A G Teive, Adriana Moro, Walter O Arruda, Salmo Raskin, Gladys M G Teive, Norberto Dalabrida, Renato P Munhoz

Journal: Arq Neuropsiquiatr. 2016 Oct;74(10):858-860.

 

The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina ...

Last Updated: 31 Dec 1969

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Kv3.3 potassium channels and spinocerebellar ataxia.
 

Author(s): Yalan Zhang, Leonard K Kaczmarek

Journal: J. Physiol. (Lond.). 2016 08;594(16):4677-84.

 

The voltage-dependent potassium channel subunit Kv3.3 is expressed at high levels in cerebellar Purkinje cells, in auditory brainstem nuclei and in many other neurons capable of firing at high rates. In the cerebellum, it helps to shape the very characteristic complex spike of Purkinje ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial Readiness for SCA1 and SCA3
 

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia 3

 

Last Updated: 9 Apr 2018

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Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia
 

Status: Not yet recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6

 

Last Updated: 18 Dec 2017

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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6

 

Last Updated: 21 Jun 2018

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