Mitochondrial spinocerebellar ataxia and epilepsy (MSCAE)
Evidence-based neurology checklist on mitochondrial spinocerebellar ataxia and epilepsy (mscae): Genetics and demography This is caused by mutations in the mitochondrial DNA polymerase gamma (POLG) gene The onset age is in the teen years: the mean onset age is 19 years Epilepsy presentations Other…
Genetics and demography
- This is caused by mutations in the mitochondrial DNA polymerase gamma (POLG) gene
- The onset age is in the teen years: the mean onset age is 19 years
Epilepsy presentations
Other neurological features
Gastrointestinal features
Magnetic resonance imaging (MRI): sites of T2 signal changes
Diffusion weighted imaging (DWI)
Electroencephalogram (EEG): features
References
- Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008; 131:818-828.
- Bindoff LA, Engelsen BA. Mitochondrial diseases and epilepsy. Epilepsia 2012; 53(Suppl. 4):92-97.
- Tzoulis C, Bindoff LA. The syndrome of mitochondrial spinocerebellar ataxia and epilepsy caused by POLG mutations. ACNR 2009; 9:13-16.
