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Spinocerebellar Ataxias

More information in Books or onNLM PubMed
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)  SPINOCEREBELLAR ATAXIA TYPE 3 see MACHADO-JOSEPH DISEASE is available   
Examples Ataxia Telangiectasia; Machado-Joseph Disease 		Other names Spinocerebellar Atrophy; Spinocerebellar Ataxias, Dominantly Inherited; Spinocerebellar Ataxia, Dominantly-Inherited; Spinocerebellar Ataxia 7; Spinocerebellar Ataxia 6; Spinocerebellar Ataxia 5; Spinocerebellar Ataxia 4; Spinocerebellar Ataxia 2; Spinocerebellar Ataxia 1; Spinocerebellar Ataxia; Dominantly-Inherited Spinocerebellar Ataxia; Dominantly Inherited Spinocerebellar Ataxias; Atrophy, Spinocerebellar; Atrophies, Spinocerebellar; Ataxias, Spinocerebellar; Ataxias, Dominantly-Inherited Spinocerebellar; Ataxia, Spinocerebellar; Ataxia, Dominantly-Inherited Spinocerebellar; Type 7 Spinocerebellar Ataxia; Type 6 Spinocerebellar Ataxia
 
SubstanceCAS Registry & nameCategoriesSource
Gemignani syndrome  0   *Hearing Loss, Sensorineural *Paraparesis, Spastic *Spinocerebellar Ataxias.
Spinocerebellar ataxia 26  0   *Spinocerebellar Ataxias.
Spinocerebellar ataxia 25  0   *Spinocerebellar Ataxias.
Spinocerebellar ataxia 20  0   *Spinocerebellar Ataxias.
Spastic ataxia Charlevoix-Saguenay type  0   *Muscle Spasticity *Spinocerebellar Ataxias/congenital.
Anemia, sideroblastic spinocerebellar ataxia  0   *Anemia, Sideroblastic *Spinocerebellar Ataxias.
PPP2R2B protein, human  EC 3.1.3.16   *Nerve Tissue Proteins *Protein Phosphatase 2 Spinocerebellar Ataxias. Ann Hum Genet 2005 Sep;69(Pt 5):528-34
SPTBN2 protein, human  0   *Spectrin Spinocerebellar Ataxias. Neurology 2004 Jan 27;62(2):327-9

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