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Source: Metabolic Brain Disease
Condition: Ataxia
Education: Learning
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Metabolic stroke in a patient with bi-allelic OPA1 mutations
We describe metabolic stroke in a patient with bi-allelicOPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that includes: early onset optic atrophy at one year of age, progressive gait ataxia, dysarthria, tremor and learning impairment. A metabolic stroke occurred at the age of 12 years. The patient was found to harbor a de novo heterozygous frame shift mutation c.1963_1964dupAT; p.Lys656fs (NM_015560.2) and a missense mutation c.1146A > G; Ile382Met (NM_015560.2) inherited from her mother. The mother, aunt, and grandmother are heterozygous for the Ile382Met mutation and are as...
Source: Metabolic Brain Disease - April 9, 2019 Category: Neurology Source Type: research
