Alpers syndrome

Definition:

Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized by the clinical triad of refractory seizures, psychomotor regression, and characteristic liver disease. The tempo of disease progression and onset varies among patients. The majority of patients are healthy before disease onset, and seizures herald the disorder in most patients.

References:

[1]. Johanna Uusimaa, et al. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia. 2008 Jun;49(6):1038-45. [Content Brief]

[2]. K V Nguyen, et al. POLG mutations in Alpers syndrome. Neurology. 2005 Nov 8;65(9):1493-5. [Content Brief]

[3]. Russell P Saneto, et al. Alpers-Huttenlocher syndrome. Pediatr Neurol. 2013 Mar;48(3):167-78. [Content Brief]

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