Spinocerebellar Ataxias

"Spinocerebellar Ataxias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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)

Descriptor ID	D020754
MeSH Number(s)	C10.228.140.252.190.530 C10.228.140.252.700.700 C10.228.854.787.875 C10.574.500.825.700 C10.597.350.090.500.530 C16.320.400.780.875
Concept/Terms	Spinocerebellar Ataxias Spinocerebellar Ataxias Ataxia, Spinocerebellar Ataxias, Spinocerebellar Spinocerebellar Ataxia Dominantly-Inherited Spinocerebellar Ataxias Ataxia, Dominantly-Inherited Spinocerebellar Ataxias, Dominantly-Inherited Spinocerebellar Dominantly Inherited Spinocerebellar Ataxias Dominantly-Inherited Spinocerebellar Ataxia Spinocerebellar Ataxia, Dominantly-Inherited Spinocerebellar Ataxias, Dominantly-Inherited Spinocerebellar Ataxias, Dominantly Inherited Spinocerebellar Atrophies Atrophies, Spinocerebellar Atrophy, Spinocerebellar Spinocerebellar Atrophy Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 2 Type 2 Spinocerebellar Ataxia Spinocerebellar Ataxia 2 Ataxia 2, Spinocerebellar Ataxia 2s, Spinocerebellar Spinocerebellar Ataxia 2s Wadia-Swami Syndrome Syndrome, Wadia-Swami Cerebellar Degeneration with Slow Eye Movements Olivopontocerebellar Atrophy II Atrophy II, Olivopontocerebellar Atrophy IIs, Olivopontocerebellar II, Olivopontocerebellar Atrophy IIs, Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy IIs Spinocerebellar Atrophy II Atrophy II, Spinocerebellar Atrophy IIs, Spinocerebellar II, Spinocerebellar Atrophy IIs, Spinocerebellar Atrophy Spinocerebellar Atrophy IIs Olivopontocerebellar Atrophy 2 Atrophy 2, Olivopontocerebellar Atrophy 2s, Olivopontocerebellar Olivopontocerebellar Atrophy 2s Spinocerebellar Ataxia with Slow Eye Movements Spinocerebellar Ataxia, Cuban Type Spinocerebellar Atrophy 2 Atrophy 2, Spinocerebellar Atrophy 2s, Spinocerebellar Spinocerebellar Atrophy 2s Spinocerebellar Degeneration with Slow Eye Movements Wadia Swami Syndrome Swami Syndrome, Wadia Syndrome, Wadia Swami Olivopontocerebellar Atrophy, Holguin Type Spinocerebellar Ataxia-2 Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 7 Type 7 Spinocerebellar Ataxia OPCA with Retinal Degeneration Olivopontocerebellar Atrophy III Atrophy III, Olivopontocerebellar Olivopontocerebellar Atrophy IIIs Autosomal Dominant Cerebellar Ataxia, Type II OPCA with Macular Degeneration and External Ophthalmoplegia Spinocerebellar Ataxia-7 Spinocerebellar Ataxia 7 Ataxia 7, Spinocerebellar Ataxia 7s, Spinocerebellar Spinocerebellar Ataxia 7s Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 5 Type 5 Spinocerebellar Ataxia Spinocerebellar Ataxia 5 Ataxia 5, Spinocerebellar Ataxia 5s, Spinocerebellar Spinocerebellar Ataxia 5s Spinocerebellar Ataxia-5 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia 6 Ataxia 6, Spinocerebellar Ataxia 6s, Spinocerebellar Spinocerebellar Ataxia 6s Spinocerebellar Ataxia-6 Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia 1 Ataxia 1, Spinocerebellar Spinocerebellar Ataxia 1s Spinocerebellar Atrophy I Atrophy I, Spinocerebellar Spinocerebellar Atrophy Is SCA1 SCA1s Cerebelloparenchymal Disorder I Cerebelloparenchymal Disorder Is Menzel Type OPCA OPCA, Menzel Type Schut-Haymaker Type OPCA OPCA, Schut-Haymaker Type Schut Haymaker Type OPCA Olivopontocerebellar Atrophy IV Atrophy IV, Olivopontocerebellar Atrophy IVs, Olivopontocerebellar Olivopontocerebellar Atrophy IVs Spinocerebellar Ataxia-1 Olivopontocerebellar Atrophy I Atrophy I, Olivopontocerebellar Olivopontocerebellar Atrophy Is Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia 4 Ataxia 4, Spinocerebellar Ataxia 4s, Spinocerebellar Spinocerebellar Ataxia 4s Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy Spinocerebellar Ataxia-4 Type 4 Spinocerebellar Ataxia

Below are MeSH descriptors whose meaning is more general than "Spinocerebellar Ataxias".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Brain Diseases [C10.228.140]
Cerebellar Diseases [C10.228.140.252]
Cerebellar Ataxia [C10.228.140.252.190]
Spinocerebellar Ataxias [C10.228.140.252.190.530]
Spinocerebellar Degenerations [C10.228.140.252.700]
Spinocerebellar Ataxias [C10.228.140.252.700.700]
Spinal Cord Diseases [C10.228.854]
Spinocerebellar Degenerations [C10.228.854.787]
Spinocerebellar Ataxias [C10.228.854.787.875]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Spinocerebellar Degenerations [C10.574.500.825]
Spinocerebellar Ataxias [C10.574.500.825.700]
Neurologic Manifestations [C10.597]
Dyskinesias [C10.597.350]
Ataxia [C10.597.350.090]
Cerebellar Ataxia [C10.597.350.090.500]
Spinocerebellar Ataxias [C10.597.350.090.500.530]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Spinocerebellar Degenerations [C16.320.400.780]
Spinocerebellar Ataxias [C16.320.400.780.875]

Below are MeSH descriptors whose meaning is related to "Spinocerebellar Ataxias".

Below are MeSH descriptors whose meaning is more specific than "Spinocerebellar Ataxias".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Spinocerebellar Ataxias" by people in this website by year, and whether "Spinocerebellar Ataxias" was a major or minor topic of these publications.

Bar chart showing 19 publications over 14 distinct years, with a maximum of 3 publications in 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Total
1999	2	2
2003	1	1
2004	1	1
2005	1	1
2006	2	2
2007	1	1
2010	1	1
2011	2	2
2012	1	1
2013	3	3
2014	1	1
2016	1	1
2017	1	1
2020	1	1

Below are the most recent publications written about "Spinocerebellar Ataxias" by people in Profiles.

Clatot J, Neyroud N, Cox R, Souil C, Huang J, Guicheney P, Antzelevitch C. Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. Int J Mol Sci. 2020 Jul 17; 21(14).

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Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altm?ller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Br?stle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Sch?ls L, N?rnberg P, Zuchner S, Klockgether T, Ramirez A, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578.

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Amato D, Canneva F, Nguyen HP, Bauer P, Riess O, von H?rsten S, M?ller CP. Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat. J Psychopharmacol. 2017 04; 31(4):461-473.

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Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Sch?ls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55.

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Laffita-Mesa JM, Almaguer-Mederos LE, Kour? V, Bauer PO, V?zquez-Mojena Y, Cruz Mari?o T, Vel?zquez-P?rez L. Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature. Clin Genet. 2014 Jul; 86(1):96-8.

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Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22; 33(21):9068-81.

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Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Sch?le R, Haack TB, Sch?ning M, Biskup S, Rudnik-Sch?neborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Kr?ger S, Kreuz F, Bauer P, Sch?ls L. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013 Mar 15; 8:41.

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Wong AL, Shelhamer M. Using prediction errors to drive saccade adaptation: the implicit double-step task. Exp Brain Res. 2012 Oct; 222(1-2):55-64.

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Kumar N, Pulido JS. High-definition spectral domain optical coherence tomography in the evaluation of ataxia with visual impairment. Br J Ophthalmol. 2011 Apr; 95(4):591,598.

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Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-H?bsch T, W?llner U, N?gele T, Riess O, Sch?ls L, Bauer P. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011 Jun; 48(6):407-12.

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