Spinocerebellar Ataxia 12

due to expansion of a CAG repeat in a brain-specific regulatory subunit of the protein phosphatase PP2A

Also Known As:

SCA12 Spinocerebellar Ataxia 12

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Spinocerebellar Degenerations: 353
      - Spinocerebellar Ataxias: 2083
        Spinocerebellar Ataxia 12: 5

Related Diseases

1.	Paraneoplastic Cerebellar Degeneration
2.	Neurodegenerative Diseases (Neurodegenerative Disease)
3.	Tremor (Tremors)
4.	Memory Disorders (Memory Loss)
5.	Dysarthria (Spastic Dysarthria)

Experts

1.	Rajeswari, Moganty R: 1 article (06/2012)
2.	Srivastava, Achal K: 1 article (06/2012)
3.	Swarup, Vishnu: 1 article (06/2012)
4.	Fukuda, Yoko: 1 article (10/2010)
5.	Nakahara, Yasuo: 1 article (10/2010)
6.	Sasaki, Hidenao: 1 article (10/2010)
7.	Sato, Kazunori: 1 article (10/2010)
8.	Soma, Hiroyuki: 1 article (10/2010)
9.	Tsuji, Shoji: 1 article (10/2010)
10.	Yabe, Ichiro: 1 article (10/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar Ataxia 12:

1.	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 10/01/2010 - "This locus was flanked by markers rs681591 and rs32582 and includes PPP2R2B (protein phosphatase 2, regulatory subunit B, beta isoform), the causative gene of autosomal dominant spinocerebellar ataxia 12 (SCA12). " 12/26/2008 - "The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission." 12/01/2004 - "4. Northern blot analysis verified marked upregulation in P1 of the brain-specific protein phosphatase 2A beta subunit (PPP2R2B), a causative gene of spinocerebellar ataxia 12, and the cerebellar degeneration-related autoantigen (CDR34) gene associated with development of paraneoplastic cerebellar degeneration. "
2.	5' Untranslated Regions (5' UTR)IBA 12/01/2001 - "Spinocerebellar ataxia 12 (SCA12) is a recently identified form of autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' untranslated region of the gene PPP2R2B. " 06/01/2012 - "Spinocerebellar ataxia 12 (SCA12) is a unique dominant type of ataxia characterized by early and prominent action tremors, memory deficit, neuropathy, dysarthria, etc. The expansion of DNA triplet (CAG) repeats in 5'UTR of PPP2R2B gene appears to be the cause for the pathogenesis of the neurodegenerative disorder, SCA12. "
3.	DNA (Deoxyribonucleic Acid)IBA 06/01/2012 - "Spinocerebellar ataxia 12 (SCA12) is a unique dominant type of ataxia characterized by early and prominent action tremors, memory deficit, neuropathy, dysarthria, etc. The expansion of DNA triplet (CAG) repeats in 5'UTR of PPP2R2B gene appears to be the cause for the pathogenesis of the neurodegenerative disorder, SCA12. "
4.	AutoantigensIBA 12/01/2004 - "4. Northern blot analysis verified marked upregulation in P1 of the brain-specific protein phosphatase 2A beta subunit (PPP2R2B), a causative gene of spinocerebellar ataxia 12, and the cerebellar degeneration-related autoantigen (CDR34) gene associated with development of paraneoplastic cerebellar degeneration. "