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 161 publications over 23 distinct years, with a maximum of 18 publications in 2013

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

Year	Major Topic	Minor Topic	Total
2000	4	2	6
2001	4	0	4
2002	10	0	10
2003	6	2	8
2004	7	0	7
2005	6	2	8
2006	1	1	2
2007	8	2	10
2008	5	2	7
2009	1	0	1
2010	4	0	4
2011	7	0	7
2012	6	2	8
2013	13	5	18
2014	3	0	3
2015	8	0	8
2016	3	0	3
2017	9	0	9
2018	10	0	10
2019	4	2	6
2020	10	1	11
2021	6	2	8
2022	3	0	3

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

Lee WS, Al-Ramahi I, Jeong HH, Jang Y, Lin T, Adamski CJ, Lavery LA, Rath S, Richman R, Bondar VV, Alcala E, Revelli JP, Orr HT, Liu Z, Botas J, Zoghbi HY. Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. J Clin Invest. 2022 May 02; 132(9).

View in: PubMed
Orengo JP, Nitschke L, van der Heijden ME, Ciaburri NA, Orr HT, Zoghbi HY. Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 Apr 22; 7(8).

View in: PubMed
Zonta MB, Teive HAG, Camargo CHF, Meira AT, Lopes Neto FDN, Tensini FS, Braga CB, Ashizawa T, Munhoz RP. Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10. Clin Neurol Neurosurg. 2022 03; 214:107150.

View in: PubMed
Meira AT, Arruda WO, Franklin GL, Coutinho L, Strobel G, Ono SE, de Carvalho Neto A, Camargo CHF, Munhoz RP, Ashizawa T, Teive HAG. Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness". Mov Disord. 2021 12; 36(12):2977.

View in: PubMed
Stevens SR, van der Heijden ME, Ogawa Y, Lin T, Sillitoe RV, Rasband MN. Ankyrin-R Links Kv3.3 to the Spectrin Cytoskeleton and Is Required for Purkinje Neuron Survival. J Neurosci. 2022 01 05; 42(1):2-15.

View in: PubMed
Peng L, Wang S, Chen Z, Peng Y, Wang C, Long Z, Peng H, Shi Y, Hou X, Lei L, Wan L, Liu M, Zou G, Shen L, Xia K, Qiu R, Tang B, Ashizawa T, Klockgether T, Jiang H. Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. Mov Disord. 2022 01; 37(1):171-181.

View in: PubMed
Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T. DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. Neurotherapeutics. 2021 07; 18(3):1710-1728.

View in: PubMed
Suart CE, Perez AM, Al-Ramahi I, Maiuri T, Botas J, Truant R. Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase. Hum Mol Genet. 2021 05 17; 30(8):706-715.

View in: PubMed
Lee WS, Lavery L, Rousseaux MWC, Rutledge EB, Jang Y, Wan YW, Wu SR, Kim W, Al-Ramahi I, Rath S, Adamski CJ, Bondar VV, Tewari A, Soleimani S, Mota S, Yalamanchili HK, Orr HT, Liu Z, Botas J, Zoghbi HY. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. EMBO J. 2021 04 01; 40(7):e106106.

View in: PubMed
Nitschke L, Coffin SL, Xhako E, El-Najjar DB, Orengo JP, Alcala E, Dai Y, Wan YW, Liu Z, Orr HT, Zoghbi HY. Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3).

View in: PubMed

People

Explore

Similar Concepts

Top Journals