Mitochondrial spinocerebellar ataxia and epilepsy (MSCAE)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). This is caused by mutations in the mitochondrial DNA polymerase gamma (POLG) gene.
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
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Other neurological features
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Gastrointestinal features
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Magnetic resonance imaging (MRI): sites of T2 signal changes
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Diffusion weighted imaging (DWI)
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Electroencephalogram (EEG): features
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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.
