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 11 publications over 11 distinct years, with a maximum of 1 publications in 2004 and 2011 and 2013 and 2014 and 2015 and 2016 and 2018 and 2019 and 2020 and 2021 and 2023

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

Year	Major Topic	Minor Topic	Total
2004	1	0	1
2011	1	0	1
2013	1	0	1
2014	0	1	1
2015	1	0	1
2016	1	0	1
2018	1	0	1
2019	1	0	1
2020	1	0	1
2021	1	0	1
2023	1	0	1

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

Biswas DD, Shi Y, El Haddad L, Sethi R, Huston M, Kehoe S, Scarrow ER, Strickland LM, Pucci LA, Dhindsa JS, Hunanyan A, La Spada AR, ElMallah MK. Respiratory neuropathology in spinocerebellar ataxia type 7. JCI Insight. 2024 Jul 18; 9(18).

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Chitre M, Emery P. ATXN2 is a target of N-terminal proteolysis. PLoS One. 2023; 18(12):e0296085.

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Biswas DD, El Haddad L, Sethi R, Huston ML, Lai E, Abdelbarr MM, Mhandire DZ, ElMallah MK. Neuro-respiratory pathology in spinocerebellar ataxia. J Neurol Sci. 2022 12 15; 443:120493.

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Zhang Y, Quraishi IH, McClure H, Williams LA, Cheng Y, Kale S, Dempsey GT, Agrawal S, Gerber DJ, McManus OB, Kaczmarek LK. Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice. FASEB J. 2021 12; 35(12):e22053.

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Fusco AF, Pucci LA, Switonski PM, Biswas DD, McCall AL, Kahn AF, Dhindsa JS, Strickland LM, La Spada AR, ElMallah MK. Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7. Dis Model Mech. 2021 07 01; 14(7).

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Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J, Datta S, Hariri H, Eckert KM, Jafree DJ, Walsh C, Demetriou C, Ishida M, Alem?n-Charlet C, Vestito L, Seselgyte R, McDonald JG, Bitner-Glindzicz M, Hemberger M, Rihel J, Teboul L, Henne WM, Jenkins D, Moore GE, Stanier P. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Sci Rep. 2020 08 13; 10(1):13763.

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N?brega C, Mendon?a L, Marcelo A, Lamazi?re A, Tom? S, Despres G, Matos CA, Mechmet F, Langui D, den Dunnen W, de Almeida LP, Cartier N, Alves S. Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia. Acta Neuropathol. 2019 11; 138(5):837-858.

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Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P. SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. Hum Mol Genet. 2018 06 01; 27(11):1927-1940.

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Politi LS, Bianchi Marzoli S, Godi C, Panzeri M, Ciasca P, Brugnara G, Castaldo A, Di Bella D, Taroni F, Nanetti L, Mariotti C. MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases. Invest Ophthalmol Vis Sci. 2016 05 01; 57(6):2714-20.

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Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. Eur J Hum Genet. 2016 Apr; 24(4):550-5.

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