Spinocerebellar ataxia 20

Also Known As:

SCA20 Spinocerebellar ataxia 20; Spinocerebellar Ataxia With Dysphonia; Spinocerebellar Ataxia With Spasmodic Cough; Spinocerebellar ataxia type 20

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

1.	Mitochondrial Diseases (Mitochondrial Disease)
2.	Hereditary Spastic Paraplegia
3.	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
4.	Ataxia (Dyssynergia)
5.	Absent corpus callosum cataract immunodeficiency

Drugs and Important Biological Agents (IBA) related to Spinocerebellar ataxia 20:

1.	Sorting NexinsIBA 07/01/2021 - "Loss-of-function mutations in sorting nexin 14 (SNX14) cause autosomal recessive spinocerebellar ataxia 20, which is a form of early-onset cerebellar ataxia that lacks molecular mechanisms and mouse models. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2018 - "Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-associated β-propeller protein-associated neurodegeneration, SNX14-associated autosomal-recessive spinocerebellar ataxia 20, ATG5-associated autosomal-recessive ataxia syndrome, SQSTM1/p62-associated childhood-onset neurodegeneration, and several forms of the hereditary spastic paraplegias. "
3.	CalciumIBA 07/09/2013 - "Similar diffuse intracranial calcification can be seen in a variety of disorders including idiopathic basal ganglia calcifications and spinocerebellar ataxia 20.(1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation. "