Mitochondrial polymerase gamma (POLG): associated features
Evidence-based neurology checklist on mitochondrial polymerase gamma (polg): associated features: Movement disorders Progressive ataxia and palatal tremor (PAPT) Late-onset jerky torticollis Dystonia Chorea Endocrine disorders Ophthalmic features Gastrointestinal features Occipital epilepsy Other…
Movement disorders
- Progressive ataxia and palatal tremor (PAPT)
- Late-onset jerky torticollis
- Dystonia
- Chorea
Endocrine disorders
Ophthalmic features
Gastrointestinal features
Occipital epilepsy
Other associated features
References
- Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
- Hammans S. Mitochondrial disease: old and new. ACNR 2008; 7:12-16.
- Tang S, Wang J, Ni-Chung L, et al. Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011; 48:669-681.
- Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurol Genet 2017; 3:e181.
- Mongin M, Delorme C, Lenglet T, Jardel C, Vignal C, Roze E. Progressive ataxia and palatal tremor: think about POLG mutations. Tremor Other Hyperkinet Mov (N Y) 2016; 6:382.
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