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Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)

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A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.

Also Known As:

Marinesco Sjogren Syndrome; Spinocerebellar Degeneration; Ataxia, Hereditary; Hereditary Ataxia; Syndrome, Marinesco-Sjogren; Early Onset Cerebellar Ataxia; Late Onset Cerebellar Ataxia; Spinocerebellar Diseases; Corticostriatal Spinal Degeneration; Hereditary Ataxias; Spinocerebellar Disease; Familial Spinocerebellar Degenerations; Hereditary Spinocerebellar Degenerations; Inherited Spinocerebellar Degenerations; Marie's Cerebellar Ataxia; Spino Cerebellar Degenerations; Spino-Cerebellar Degenerations; Cerebellar Ataxia, Marie; Cerebellar Ataxia, Marie's; Cerebellar Degeneration, Primary; Corticostriatal-Spinal Degenerations; Degeneration, Corticostriatal-Spinal; Degeneration, Familial Spinocerebellar; Degeneration, Hereditary Spinocerebellar; Degeneration, Inherited Spinocerebellar; Degeneration, Primary Cerebellar; Degeneration, Spino Cerebellar; Degeneration, Spino-Cerebellar; Degeneration, Spinocerebellar; Degenerations, Corticostriatal-Spinal; Degenerations, Familial Spinocerebellar; Degenerations, Hereditary Spinocerebellar; Degenerations, Inherited Spinocerebellar; Degenerations, Primary Cerebellar; Degenerations, Spino Cerebellar; Degenerations, Spino-Cerebellar; Degenerations, Spinocerebellar; Familial Spinocerebellar Degeneration; Hereditary Spinocerebellar Degeneration; Inherited Spinocerebellar Degeneration; Maries Cerebellar Ataxia; Primary Cerebellar Degeneration; Primary Cerebellar Degenerations; Spino Cerebellar Degeneration; Spino-Cerebellar Degeneration; Spinocerebellar Degeneration, Familial; Spinocerebellar Degeneration, Hereditary; Spinocerebellar Degeneration, Inherited; Spinocerebellar Degenerations, Familial; Spinocerebellar Degenerations, Hereditary; Spinocerebellar Degenerations, Inherited; Ataxias, Hereditary; Cerebellar Ataxia, Early Onset; Cerebellar Ataxia, Late Onset; Cerebellar Degenerations, Primary; Corticostriatal-Spinal Degeneration; Marie Cerebellar Ataxia; Marinesco-Sjogren Syndrome

Networked: 244 relevant articles (6 outcomes, 20 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Ataxia (Dyssynergia)
2.	Friedreich Ataxia (Friedreich's Ataxia)
3.	Parkinson Disease (Parkinson's Disease)
4.	Tremor (Tremors)
5.	Peripheral Nervous System Diseases (PNS Diseases)

Experts

1.	Filla, Alessandro: 3 articles (01/2006 - 11/2002)
2.	Alagoz, Meryem: 2 articles (03/2014 - 01/2013)
3.	El-Khamisy, Sherif F: 2 articles (03/2014 - 01/2013)
4.	Pandolfo, Massimo: 2 articles (10/2013 - 03/2011)
5.	Manto, Mario: 2 articles (10/2013 - 09/2009)
6.	Cheng, Wen-Ling: 2 articles (12/2012 - 12/2010)
7.	Soong, Bing-Wen: 2 articles (12/2012 - 12/2010)
8.	Lee, Yi-Chung: 2 articles (12/2012 - 12/2010)
9.	Liu, Chin-San: 2 articles (12/2012 - 12/2010)
10.	Masuda, Teruaki: 2 articles (04/2011 - 06/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar Degenerations:

1.	Thyrotropin-Releasing Hormone (Protirelin)FDA Link 01/01/2004 - "TRH (thyrotropin releasing hormone) is effective for ataxic gait in some patients with spinocerebellar degeneration. " 03/01/1989 - "Thyrotropin-releasing hormone (TRH) has been reported to improve the clinical picture of patients with the predominantly cerebellar form of spinocerebellar degeneration. " 01/01/1996 - "PET study in a patient with spinocerebellar degeneration before and after long-term administration of thyrotropin releasing hormone." 01/01/1992 - "The aim of the present study was to investigate the pituitary-thyroid axis function during the long-term (30 days) intramuscular administration of 4 mg/day of thyrotropin-releasing hormone tartrate (TRH-T) in 15 patients with spinocerebellar degeneration. " 03/01/1986 - "A single blind cross over trial was conducted of thyrotropin-releasing hormone treatment in 7 patients with spinocerebellar degenerations. "
2.	DNA (Deoxyribonucleic Acid)IBA 10/01/2013 - "Diagnostic algorithms based on clinical features, imaging, and neurophysiologic and biochemical parameters can be used to guide genetic testing for hereditary ataxias, the diagnosis of which is likely to be greatly improved by the introduction of new-generation DNA-sequencing approaches. " 02/01/2005 - "In nontypical phenotypes of DNA verifying hereditary ataxias we recommend searching of comorbidity, specifically from a range of hereditary ataxias with very similar spectra of symptoms." 02/01/2005 - "Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new techniques such as DNA testing and result in misdiagnosis. " 02/01/2005 - "DNA testing broadens diagnostic tools available for hereditary ataxias. " 06/15/2004 - "After evaluation of common causes including long-term antiepileptic regimens, DNA testing for hereditary ataxias was performed and revealed the presence of an additional mutation on chromosome 9. The patient was homozygous for the Friedreich ataxia (FA) mutation, with 500 and 700 GAA repeats in the FRDA gene on chromosome 9q13. "
3.	Carbon MonoxideIBA 02/01/2011 - "We then used Medicare patient records to determine if any of these diseases co-occur with hereditary ataxia. " 05/01/1981 - "Mild but significant improvement in upper limb co-ordination was noted in 3 patients with Friedreich's ataxia, 3 with mixed ataxia and 4 patients with primary cerebellar degeneration. "
4.	Amino Acids FDA Link 05/27/1991 - "A significant reduction of putative transmitter amino acids in cerebrospinal fluid of patients with Parkinson's disease and spinocerebellar degeneration." 02/01/1986 - "Alteration of amino acids in cerebrospinal fluid from patients with Parkinson's disease and spinocerebellar degeneration."
5.	Levodopa (L Dopa)FDA LinkGeneric 01/01/1981 - "A 20-year-old patient had spinocerebellar degeneration and parkinsonian tremor that improved with L-dopa treatment. "
6.	AntibodiesIBA 07/01/1986 - "The findings may be of value in the diagnosis and screening of patients suspected of having spinocerebellar degeneration; however, the significance of these antineural antibodies in the pathogenesis of spinocerebellar degeneration is uncertain and awaits further studies." 01/01/2010 - "Antineuronal antibodies in sporadic late-onset cerebellar ataxia." 11/01/2005 - "Food antibodies were equally common in hereditary ataxias. " 07/01/1986 - "We looked for the presence of those antibodies in the sera of patients with spinocerebellar degeneration. " 12/01/1993 - "[Immunobiological approach to spinocerebellar degeneration--anti-Purkinje cell antibodies in paraneoplastic cerebellar degeneration]."
7.	Vitamin E FDA LinkGeneric 02/01/1987 - "In this study clinical progression of spinocerebellar degeneration was arrested but improvement could not be demonstrated despite adequate vitamin E replacement." 01/01/1989 - "Serum vitamin E concentrations in adult-onset spinocerebellar degeneration." 08/01/1985 - "We studied a 47-year-old man with spinocerebellar degeneration and malabsorption due to celiac enteropathy; the serum vitamin E level was normal. " 07/04/1985 - "Spinocerebellar degeneration associated with a selective defect of vitamin E absorption." 04/01/1993 - "More recently several patients with spinocerebellar degeneration from vitamin E deficiency without other evidence of malabsorption in whom progression of the diseases is terminated by the vitamin E therapy (isolated vitamin E deficiency) have been reported. "
8.	polyglutamineIBA 04/24/2009 - "Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration caused by the expansion of a polyglutamine tract within the gene product, ataxin-3. " 06/01/2012 - "Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. " 08/01/2001 - "Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study." 04/01/2003 - "These results strongly support a new mechanism for neuronal cell dysfunction and death in hereditary ataxias and suggest that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration." 11/01/2009 - "Dentatorubral-pallidoluysian atrophy (DRPLA) is a hereditary spinocerebellar degeneration caused by expansion of a trinucleotide CAG repeat encoding a polyglutamine tract in a disease protein atrophin-1. "
9.	Proteins (Proteins, Gene)IBA 01/01/2000 - "There were neither TUNEL-positive cells nor alteration of the in situ expression of apoptosis-related proteins in the dentate nucleus in either variant of hereditary spinocerebellar degeneration, although both exhibited grumose degeneration in the dentate nucleus. " 07/01/1983 - "Joseph disease is an autosomal-dominant, spinocerebellar degeneration characterized at the biochemical level by elevations in the steady-state levels of several abundant proteins (H, J, and L) in affected brain areas such as the cerebellar cortex. " 08/01/2001 - "Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study." 01/01/2003 - "Mutations in two such proteins, frataxin and ABCB7, cause Friedreich ataxia and X-linked sideroblastic anemia with ataxia, respectively, rendering other participants in this pathway functional candidates for hereditary ataxia syndromes. " 06/01/1999 - "With respect to the pathogenic mechanisms, the hereditary ataxias may be tentatively divided into three groups: (1) The recessive ataxias are induced by the functional impairment of a protein that is essential for the survival of specific neurons while the autosomal dominant ataxias are either caused by (2) mutations of genes coding for ion channels thus resulting in a channelopathy or by (3) a novel deleterious function of a extended polyglutamine sequence within the proteins encoded by the respective genes."
10.	Spastic ataxia Charlevoix-Saguenay typeIBA 07/01/2008 - "Our objective was to identify cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in Dutch patients with recessive early-onset cerebellar ataxia by sequencing the complete SACS gene. " 05/01/1979 - "Electroencephalographic studies have been done in two groups of hereditary ataxia: a group bearing the classical features of Friedreich's ataxia and a group clinically different described as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). " 07/01/2015 - "ARSACS (autosomal-recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropathy. " 03/01/2011 - "Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is an early-onset cerebellar ataxia with spasticity, amyotrophy, nystagmus, dysarthria, and peripheral neuropathy. " 07/01/2008 - "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. "

Therapies and Procedures

1.	Transplants (Transplant) 05/01/1997 - "Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies."
2.	Heterologous Transplantation (Xenotransplantation) 03/01/1980 - "Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain."
3.	Cell Transplantation 01/01/2011 - "Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia." 08/01/1991 - "Application of cell transplantation to other neurodegenerative disorders such as Alzheimer's disease, amyotrophic lateral sclerosis, and hereditary ataxia is definitely premature. "
4.	Anesthesia 02/01/1994 - "[Anesthesia for a patient with spinocerebellar degeneration--with special reference to neuromuscular blockade monitoring]." 10/01/1990 - "[Anesthesia for a patient with spinocerebellar degeneration who developed atrioventricular block]."
5.	Activities of Daily Living (ADL) 12/01/1998 - "Patients with spinocerebellar degeneration show gradual progression of symptoms and decreasing ADL (activities of daily living), resulting in their having many problems concerning daily care. " 08/01/1999 - "This follow-up study examined correlating factors, including change of activity of daily living (ADL), which are associated with subjective quality of life (QOL) in patients with neurological intractable diseases such as amyotrophic lateral sclerosis, spinocerebellar degeneration and Parkinson disease. "