Spinocerebellar Ataxia with Epilepsy

mutation in POLG

Also Known As:

Myoclonic Epilepsy Myopathy Sensory Ataxia

Networked: 2 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 with Epilepsy: 2
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Spinocerebellar Ataxia with Epilepsy: 2

Related Diseases

1.	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
2.	Ataxia (Dyssynergia)
3.	Ataxia Neuropathy Spectrum
4.	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
5.	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)

Experts

1.	Amato, Carmelo: 1 article (04/2015)
2.	Barbarino, Giuliano: 1 article (04/2015)
3.	Borgione, Eugenia: 1 article (04/2015)
4.	Castello, Filippa: 1 article (04/2015)
5.	Città, Santina: 1 article (04/2015)
6.	Di Blasi, Francesco Domenico: 1 article (04/2015)
7.	Elia, Maurizio: 1 article (04/2015)
8.	Gagliano, Catalda: 1 article (04/2015)
9.	Giambirtone, Mariaconcetta: 1 article (04/2015)
10.	Lo Giudice, Mariangela: 1 article (04/2015)

Drugs and Biologics

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

1.	Mitochondrial DNA (mtDNA)IBA 04/01/2015 - "Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome. " 05/01/2012 - "The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. "
2.	UbiquinoneIBA 05/01/2012 - "The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. "