Recessive AFG3L2 mutation causes progressive microcephaly, early onset seizures, spasticity, and basal ganglia involvement

Publication date: Available online 5 April 2017
Source:Pediatric Neurology
Author(s): Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, Saad AlShahwan, Kalthoum Tlili, Khaled Hundallah, Brahim Tabarki
BackgroundMutations in AFG3L2, a gene encoding a subunit of the mitochondrial m-AAA protease, cause spinocerebellar ataxia type 28; and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy.MethodsRetrospective review of the patient charts including their clinical history and molecular genetic, neuro-diagnostic and neuro-radiological investigations.ResultsWe report five patients from a large consanguineous family, presenting with a severe mitochondrial phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, elevated blood lactate, basal ganglia involvement; and premature death. Exome sequencing showed homozygous mutation of the AFG3L2 gene in all individuals: c.1714G>A (p.Ala572Thr).ConclusionOur findings add to the phenotypic, neuroradiological, genetic, and biochemical spectrum of AFG3L2 mutations.



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