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SPINOCEREBELLAR ATAXIA 21

Known as: SCA21 
National Institutes of Health

Related topics

Related topics

23 relations
Abnormality of extrapyramidal motor functionAggressive behaviorAkinesiaApathy

Broader (1)

Spinocerebellar Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
2020
2020
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 ( TMEM240 ) have been… 
2019
2019
Isolation and characterization of bioactive compounds with antibacterial, antioxidant and enzyme inhibitory activities from marine-derived rare actinobacteria, Nocardiopsis sp. SCA21.
Review
2019
Review
2019
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
2015
2015
Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.
Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia… 
2014
2014
Spinocerebellar Ataxia 21 with Retardation
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative… 
2008
2008
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects exhibit… 
2004
2004
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1
The recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic… 
2003
2003
Identification d'un nouveau locus responsable d'une ataxie spinocérébelleuse héréditaire (SCA21) : approche gène-candidat
Highly Cited
2002
Highly Cited
2002
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all… 
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