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Spinocerebellar Ataxias (Spinocerebellar Ataxia)

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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)

Experts

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 11/01/2008 - "Two patients with spinocerebellar ataxia (types 3 and 14) experienced marked improvement in their cerebellar symptoms shortly after taking varenicline (Chantix)." 11/01/2008 - "Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14)." 02/21/2012 - "The objective of this double-blind, placebo-controlled, randomized study was to evaluate the efficacy of varenicline (Chantix), a partial agonist at α4β2 neuronal nicotinic acetylcholine receptors used for smoking cessation, in patients with spinocerebellar ataxia (SCA) 3. Patients with genetically confirmed SCA3 were randomly assigned to receive either varenicline (4 weeks for titration and 4 weeks at a dose of 1 mg twice daily) or placebo. "
2.	polyglutamineIBA 03/27/2013 - "Previous studies indicate that while transgenic mice with ATXN1[30Q]-D776-induced disease share pathological features caused by ATXN1[82Q] having an expanded polyglutamine tract, they fail to manifest the age-related progressive neurodegeneration seen in spinocerebellar ataxia type 1. The shared features include morphological alterations in climbing fiber (CF) innervation of Purkinje cells (PCs). " 01/01/2010 - "In the present study, we prepared an animal model of adult-onset spinocerebellar ataxia type 7 (SCA7) by generating transgenic mice expressing polyglutamine-expanded ataxin-7-Q52. " 12/01/2006 - "In the present study we performed a systematic post mortem study on thick serial tissue sections through the ingestion-related brainstem nuclei of 12 dysphagic patients who suffered from clinically diagnosed and genetically confirmed spinocerebellar ataxias assigned to the CAG-repeat or polyglutamine diseases (two SCA2, seven SCA3, one SCA6 and two SCA7 patients) and evaluated their medical records. " 01/01/2003 - "Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model." 12/01/1999 - "Moreover, recent studies have shown that autosomal dominant spinocerebellar ataxias are characterized by intra-nuclear inclusions containing polyglutamine in affected cells. "
3.	Proteins (Proteins, Gene)IBA 01/01/2006 - "A large yeast two-hybrid study investigating whether the proteins mutated in different forms of spinocerebellar ataxia have interacting protein partners in common suggests that some forms do share common pathways, and will provide a valuable resource for future work on these diseases." 06/01/2014 - "Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17." 06/01/2012 - "Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12." 10/04/2011 - "Expressing pathogenic spinocerebellar ataxia type 1 (SCA1) or type 3 (SCA3) proteins in Drosophila larval dendritic arborization neurons caused neuronal type-specific dendrite phenotypes primarily affecting terminal branches. " 09/25/2006 - "We report that efficient elimination of misfolded ER proteins also involves ataxin-3 (atx3), a p97-associated deubiquitinating enzyme mutated in type-3 spinocerebellar ataxia. "
4.	Staphylococcal Protein A (A, Protein)IBA 10/01/2004 - "Human ataxin 2 is a protein of unknown function that is implicated in the neurodegenerative disorder spinocerebellar ataxia type 2. We found that the C. " 09/01/2007 - "Ataxin 1 (Atxn1) is a protein of unknown function associated with spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease of late onset with variable degrees of cerebellar ataxia, ophthalmoplegia and neuropathy. " 01/01/2012 - "Moreover, we observed that FOX-2 directly interacts with ataxin-2, a protein modulating spinocerebellar ataxia type 1 pathogenesis. " 02/01/2006 - "This delay was accompanied by stabilization of p300/CBP, transcriptional mediators whose abundance and activity would otherwise decline in the course of the SCA1 disease, and persistence of protein kinase C gamma (PKCgamma), a protein involved in Purkinje cell dendritic development that is mutated in one form of spinocerebellar ataxia. " 01/06/2006 - "Ataxin-2, the gene product of the Spinocerebellar Ataxia Type 2 (SCA2) gene, is a protein of unknown function with abundant expression in embryonic and adult tissues. "
5.	ataxin-7IBA 01/01/2014 - "Spinocerebellar ataxia 7 (SCA7) is an incurable disease caused by expansion of CAG trinucleotide sequences within the Ataxin-7 gene. " 06/01/2012 - "Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder associated with cerebellar neurodegeneration caused by expansion of a CAG repeat in the ataxin-7 gene. " 09/01/2004 - "Here, we describe an infant with 180 CAG repeats in the spinocerebellar ataxia type 7 gene and focus on systemic ataxin-7 aggregation. " 03/01/2001 - "Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients." 09/01/1999 - "Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7."
6.	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 02/21/2012 - "The objective of this double-blind, placebo-controlled, randomized study was to evaluate the efficacy of varenicline (Chantix), a partial agonist at α4β2 neuronal nicotinic acetylcholine receptors used for smoking cessation, in patients with spinocerebellar ataxia (SCA) 3. Patients with genetically confirmed SCA3 were randomly assigned to receive either varenicline (4 weeks for titration and 4 weeks at a dose of 1 mg twice daily) or placebo. "
7.	Choline (Choline Chloride)IBA 05/01/1981 - "Choline chloride in the treatment of cerebellar and spinocerebellar ataxia." 05/01/1981 - "The use of orally administered choline chloride in the treatment of cerebellar and spinocerebellar ataxia was investigated by a short-term double-blind crossover trial in 20 patients with ataxia. " 05/01/1981 - "These patients, who include 7 with Friedreich's ataxia, 7 with mixed spinocerebellar ataxia and 6 will primary cerebellar degeneration received placebo and 6g/day or 12g/day of choline with crossover at 6 weeks. " 05/01/1981 - "Choline chloride produces a mild but functionally significant improvement in motor co-ordination in some patients with cerebellar and spinocerebellar ataxia."
8.	tyrosyl-DNA phosphodiesteraseIBA 01/01/2010 - "Spinocerebellar ataxia with axonal neuropathy (SCAN 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene. " 08/01/2009 - "Tdp1 is a well-conserved tyrosyl-DNA phosphodiesterase required for single-strand break DNA repair, the mutation of Tdp1 is responsible for the recessively inherited syndrome spinocerebellar ataxia with axonal neuropathy (SCAN1) in humans. " 03/18/2009 - "In humans, a mutation in the tyrosyl-DNA phosphodiesterase (Tdp1) is responsible for the recessively inherited syndrome spinocerebellar ataxia with axonal neuropathy (SCAN1). " 04/14/2007 - "In particular, spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with mutation of TDP1 (tyrosyl DNA phosphodiesterase 1) protein and with a defect in repairing certain types of SSBs. " 05/01/2009 - "A homozygous H493R mutation in the active site of tyrosyl-DNA phosphodiesterase (TDP1) has been implicated in hereditary spinocerebellar ataxia with axonal neuropathy (SCAN1), an autosomal recessive neurodegenerative disease. "
9.	Carbon MonoxideIBA 05/01/2012 - "We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease in these families in whom we had previously identified an ~0.8 Mb linkage region to chromosome 20 p. " 01/01/2012 - "Neurological examination indicated abnormal co-ordination, suggesting the presence of inherited spinocerebellar ataxia (SCA). " 05/01/2000 - "Motor neuron loss in a patient with spinocerebellar ataxia type 6: chance co-occurrence or causally related?" 01/15/2013 - "The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease." 05/01/1981 - "Choline chloride produces a mild but functionally significant improvement in motor co-ordination in some patients with cerebellar and spinocerebellar ataxia."
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) 03/01/2014 - "The aim of this study is to report on the clinical efficacy of epidural thoracic spinal cord stimulation on gait and balance in a 39-year-old man with genetically confirmed spinocerebellar ataxia 7. A RESUME Medtronic electrode was placed at the epidural T11 level. " 08/01/2007 - "Eleven patients with disabling intention tremor of different etiology (essential tremor (n = 8), multiple sclerosis (n = 2) and one with, spinocerebellar ataxia) were implanted bilaterally with DBS electrodes targeted to the ventro-lateral thalamus using micro-recording and micro-stimulation. "
2.	Mesenchymal Stem Cell Transplantation 01/01/2011 - "Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells."
3.	Radiotherapy 01/01/1989 - "One of 4 siblings affected by hereditary spinocerebellar ataxia (HSCA) of Marie's type developed Hodgkin's disease (HD): the stage was IV B, the patient was submitted to conventional chemo- and radiotherapy and achieved complete remission. "
4.	Injections 01/01/2001 - "ursodeoxycholic acid injections markedly elevated ursodeoxycholic acid levels in the brain without adverse effects, but provided no improvement in phenotype or cell survival in spinocerebellar ataxia type 1 mice. "
5.	Occupational Therapy (Therapy, Occupational) 01/01/2014 - "The 14th trial, involving a mixed group of participants with spinocerebellar ataxia, compared the effectiveness of nonspecific physiotherapy and occupational therapy within an inpatient hospital setting to no treatment. "