Spinocerebellar Ataxias (Spinocerebellar Ataxia)

A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Also Known As:
Spinocerebellar Ataxia; Spinocerebellar Ataxia Type 6; Spinocerebellar Atrophy; Dominantly-Inherited Spinocerebellar Ataxias; Spinocerebellar Ataxia-1; Spinocerebellar Ataxia-2; Spinocerebellar Ataxia-4; Spinocerebellar Ataxia-5; Spinocerebellar Ataxia-6; Spinocerebellar Ataxia-7; Spinocerebellar Ataxias, Dominantly-Inherited; Type 1 Spinocerebellar Ataxia; Type 2 Spinocerebellar Ataxia; Type 4 Spinocerebellar Ataxia; Type 5 Spinocerebellar Ataxia; Type 6 Spinocerebellar Ataxia; Type 7 Spinocerebellar Ataxia; Ataxia, Dominantly-Inherited Spinocerebellar; Ataxia, Spinocerebellar; Ataxias, Dominantly-Inherited Spinocerebellar; Ataxias, Spinocerebellar; Atrophies, Spinocerebellar; Atrophy, Spinocerebellar; Dominantly Inherited Spinocerebellar Ataxias; Dominantly-Inherited Spinocerebellar Ataxia; Spinocerebellar Ataxia 1; Spinocerebellar Ataxia 2; Spinocerebellar Ataxia 4; Spinocerebellar Ataxia 5; Spinocerebellar Ataxia 6; Spinocerebellar Ataxia 7; Spinocerebellar Ataxia, Dominantly-Inherited; Spinocerebellar Ataxias, Dominantly Inherited; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxia Type 5; Spinocerebellar Ataxia Type 7; Spinocerebellar Atrophies
Networked: 1009 relevant articles (20 outcomes, 54 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neurodegenerative Diseases (Neurodegenerative Disease)
2. Ataxia (Dyssynergia)
3. Huntington Disease (Huntington's Disease)
4. Alzheimer Disease (Alzheimer's Disease)
5. Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)


1. Zoghbi, Huda Y: 37 articles (03/2015 - 01/2002)
2. Orr, Harry T: 35 articles (08/2015 - 01/2002)
3. Brice, Alexis: 21 articles (04/2015 - 01/2002)
4. La Spada, Albert R: 18 articles (07/2015 - 06/2002)
5. Lee-Chen, Guey-Jen: 16 articles (05/2015 - 10/2008)
6. Stevanin, Giovanni: 16 articles (11/2014 - 01/2002)
7. Mizusawa, Hidehiro: 14 articles (09/2015 - 04/2003)
8. Ishikawa, Kinya: 14 articles (09/2015 - 04/2003)
9. Chen, Chiung-Mei: 14 articles (05/2015 - 10/2008)
10. Seki, Takahiro: 13 articles (01/2015 - 08/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar Ataxias:
1. varenicline (Chantix)FDA Link
2. polyglutamineIBA
3. Proteins (Proteins, Gene)IBA
4. Staphylococcal Protein A (A, Protein)IBA
5. ataxin-7IBA
6. Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA
7. Choline (Choline Chloride)IBA
8. tyrosyl-DNA phosphodiesteraseIBA
9. Carbon MonoxideIBA
10. Nuclear Proteins (Protein, Nuclear)IBA
06/01/2013 - "We showed previously, in a cell model of spinocerebellar ataxia 7, that interferon beta induces the expression of PML protein and the formation of PML protein nuclear bodies that degrade mutant ataxin 7, suggesting that the cytokine, used to treat multiple sclerosis, might have therapeutic value in spinocerebellar ataxia 7. We now show that interferon beta also induces PML-dependent clearance of ataxin 7 in a preclinical model, SCA7(266Q/5Q) knock-in mice, and improves motor function. "
09/05/2003 - "We had previously described the leucine-rich acidic nuclear protein (LANP) as a candidate mediator of toxicity in the polyglutamine disease, spinocerebellar ataxia type 1 (SCA1). "
11/01/2011 - "Proteome analysis of soluble nuclear proteins identified decreased HMGB1/2 in vulnerable neurons of Huntington's disease (HD) and spinocerebellar ataxia type 1 (SCA1). "
09/01/2013 - "We analyzed expression and distribution patterns of three RNA processing-related proteins, nucleolar protein (NOP) 56 (identified as causative gene for spinocerebellar ataxia (SCA) 36, nicknamed Asidan), TDP-43, and fused in sarcoma/translocated in liposarcoma (FUS) in lumbar and cervical cords, hypoglossal nucleus, cerebral motor cortex, and cerebellum of transgenic (Tg) SOD1 G93A ALS model mice throughout the course of motor neuron degeneration. "
01/01/2015 - "Mutant ataxin-1 (Atxn1), which causes spinocerebellar ataxia type 1 (SCA1), binds to and impairs the function of high-mobility group box 1 (HMGB1), a crucial nuclear protein that regulates DNA architectural changes essential for DNA damage repair and transcription. "

Therapies and Procedures

1. Electrodes (Electrode)
2. Mesenchymal Stem Cell Transplantation
3. Radiotherapy
4. Injections
5. Occupational Therapy (Therapy, Occupational)