spinocerebellar ataxias

Preferred Label : spinocerebellar ataxias;

MeSH definition : 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); A group of 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);

MeSH synonym : spinocerebellar atrophy; atrophy, spinocerebellar; spinocerebellar atrophies; ataxia, spinocerebellar; ataxias, spinocerebellar; spinocerebellar ataxia; atrophies, spinocerebellar;

CISMeF synonym : 5, spinocerebellar ataxia; dominantly-inherited spinocerebellar ataxias;

CISMeF acronym : SCA1;

DeCS synonym : SCA1;

MeSH hyponym : spinocerebellar ataxia type 1; spinocerebellar ataxia type 4; spinocerebellar ataxia type 2; spinocerebellar ataxia type 6; spinocerebellar ataxia type 5; spinocerebellar ataxia type 7; 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; 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; Type 5 Spinocerebellar Ataxia; Spinocerebellar Ataxia 5; Ataxia 5, Spinocerebellar; Ataxia 5s, Spinocerebellar; Spinocerebellar Ataxia 5s; Spinocerebellar Ataxia-5; Type 6 Spinocerebellar Ataxia; Spinocerebellar Ataxia 6; Ataxia 6, Spinocerebellar; Ataxia 6s, Spinocerebellar; Spinocerebellar Ataxia 6s; Spinocerebellar Ataxia-6; 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 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; 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;

MeSH annotation : SPINOCEREBELLAR ATAXIA TYPE 3 see MACHADO-JOSEPH DISEASE is available;

Wikipedia link : https://en.wikipedia.org/wiki/Spinocerebellar ataxia type 6;

Details

Origin ID

D020754;

UMLS CUI

C0087012;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Autosomal dominant cerebellar ataxia [ORDO Disease]
- Spinocerebellar Ataxia [NCIt concept]
- Spinocerebellar ataxia [PASCAL descriptor]
- Spinocerebellar ataxia [ICD-11 Sub-sub category]
- Spinocerebellar ataxia [MedDRA LLT]
- Spinocerebellar ataxia [OMIM phenotypic series]
- Spinocerebellar ataxia (disorder) [SNOMED CT concept]
- spinocerebellar ataxia [Disease (Nov.)]
- spinocerebellar ataxia [MedDRA Preferred Term]
- spinocerebellar ataxia [SNOMED Notion]
DO Cross reference
- autosomal dominant cerebellar ataxia [DO Concept]
- spinocerebellar ataxia type 4 [DO Concept]
False automatic mappings
- Ataxia [HPO term]
HPO term
- Spinocerebellar atrophy [HPO term]
Indexing information
- PPP2R2B protein, human [MeSH Supplementary Concept]
- SPTBN2 protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
- Autosomal dominant cerebellar ataxia type II [ORDO Disease]
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
- Autosomal dominant cerebellar ataxia type IV [ORDO Disease]
- Autosomal dominant spinocerebellar ataxia due to a channelopathy [ORDO Disease]
- Autosomal dominant spinocerebellar ataxia due to a point mutation [ORDO Disease]
- Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly [ORDO Disease]
- Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine [ORDO Disease]
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Unclassified autosomal dominant spinocerebellar ataxia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a voltage-gated calcium channel defect [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Huntington disease-like syndrome [ORDO Disease]
- Late-onset ataxia with dementia [ORDO Disease]
- Neurodegenerative disease with dementia [ORDO Disease]
- Rare ataxia [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare hereditary ataxia [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Spinocerebellar ataxia with oculomotor anomaly [ORDO Disease]
Record concept(s)
- Dominantly-Inherited Spinocerebellar Ataxias [MeSH concept]
- spinocerebellar ataxia type 1 [MeSH concept]
- spinocerebellar ataxia type 2 [MeSH concept]
- spinocerebellar ataxia type 4 [MeSH concept]
- spinocerebellar ataxia type 5 [MeSH concept]
- spinocerebellar ataxia type 6 [MeSH concept]
- spinocerebellar ataxia type 7 [MeSH concept]
- spinocerebellar ataxias [MeSH concept]
Related MeSH Supplementary Concept(s)
- anemia, sideroblastic spinocerebellar ataxia [MeSH Supplementary Concept]
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
- gemignani syndrome [MeSH Supplementary Concept]
- spastic ataxia [MeSH Supplementary Concept]
- spastic ataxia Charlevoix-Saguenay type [MeSH Supplementary Concept]
- spinocerebellar ataxia 10 [MeSH Supplementary Concept]
- spinocerebellar ataxia 11 [MeSH Supplementary Concept]
- spinocerebellar ataxia 12 [MeSH Supplementary Concept]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia 15 [MeSH Supplementary Concept]
- spinocerebellar ataxia 17 [MeSH Supplementary Concept]
- spinocerebellar ataxia 20 [MeSH Supplementary Concept]
- spinocerebellar ataxia 25 [MeSH Supplementary Concept]
- spinocerebellar ataxia 26 [MeSH Supplementary Concept]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia 30 [MeSH Supplementary Concept]
- spinocerebellar ataxia 31 [MeSH Supplementary Concept]
- spinocerebellar ataxia and Plaque-Like deposits [MeSH Supplementary Concept]
- spinocerebellar ataxia with dysmorphism [MeSH Supplementary Concept]
- spinocerebellar ataxia with epilepsy [MeSH Supplementary Concept]
- spinocerebellar ataxia with rigidity and peripheral neuropathy [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 1 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 5 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 7 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 8 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 9 [MeSH Supplementary Concept]
See also
- Ataxin-1 [MeSH Descriptor]
- Ataxin-2 [MeSH Descriptor]
- Ataxin-3 [MeSH Descriptor]
- Ataxin-7 [MeSH Descriptor]
- Ataxins [MeSH Descriptor]
See also inter- (CISMeF)
- olivopontocerebellar atrophy [DO Concept]
- spinocerebellar ataxia 6 [Disease (Nov.)]
- spinocerebellar ataxia 7 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant cerebellar ataxia [ORDO Disease]
- Spinocerebellar Ataxia [NCIt concept]
- Spinocerebellar ataxia [ICD-11 Sub-sub category]
- Spinocerebellar ataxia [MedDRA LLT]
- Spinocerebellar ataxia (disorder) [SNOMED CT concept]
- Spinocerebellar atrophy [HPO term]
- autosomal dominant cerebellar ataxia [DO Concept]
- spinocerebellar ataxia [SNOMED Notion]
- spinocerebellar ataxia [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Autosomal dominant ataxia [Vue CIM-11]
- Olivopontocerebellar atrophy V [OMIM Phenotype]
- Spinocerebellar Ataxia Type 1 [NCIt concept]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- Spinocerebellar Ataxia Type 6 [NCIt concept]
- Spinocerebellar Ataxia Type 7 [NCIt concept]
- Spinocerebellar ataxia 10 [OMIM Phenotype]
- Spinocerebellar ataxia type 1 [ICD-11 More detail]
- Spinocerebellar ataxia type 10 [ICD-11 More detail]
- Spinocerebellar ataxia type 12 [ICD-11 More detail]
- Spinocerebellar ataxia type 17 [ICD-11 More detail]
- Spinocerebellar ataxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- Spinocerebellar ataxia type 4 [ICD-11 More detail]
- Spinocerebellar ataxia type 4 [ORDO Disease]
- Spinocerebellar ataxia type 5 [ICD-11 More detail]
- Spinocerebellar ataxia type 6 [ICD-11 More detail]
- Spinocerebellar ataxia type 7 [ICD-11 More detail]
- autosomal dominant cerebellar ataxia [DO Concept]
- olivopontocerebellar atrophy i [Disease (Nov.)]
- olivopontocerebellar atrophy iv [Disease (Nov.)]
- spinocerebellar ataxia 1 [Disease (Nov.)]
- spinocerebellar ataxia 2 [Disease (Nov.)]
- spinocerebellar ataxia 4 [Disease (Nov.)]
- spinocerebellar ataxia 5 [Disease (Nov.)]
- spinocerebellar ataxia type 1 [DO Concept]
- spinocerebellar ataxia type 5 [DO Concept]

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