Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
Loss-of-function mutations in the FOLR1 gene (MIM *136430), encoding the folate receptor alpha, impair cerebral folate transport and lead to a progressive neurometabolic disorder. We report on a 5-year-old boy with progressive ataxia, from the age of 2 years and 6 months, with myoclonic jerks, regression, and impressive myoclonic tonic spasms with drop attacks, which were partially provoked by touching his face or washing his hands. Delayed myelination and cerebellar atrophy on cranial MRI were important clues to the diagnosis of cerebral folate transport deficiency, which was confirmed by homozygosity for the known nonsense mutation p.R204X in the FOLR1 gene. Computed tomography taken after head injury revealed bilateral calcifications in the basal ganglia as a novel finding in a patient with FOLR1 mutation.
['Toelle|Sandra P|SP|', 'Wille|David|D|', 'Schmitt|Bernhard|B|', 'Scheer|Ianina|I|', 'Thöny|Beat|B|', 'Plecko|Barbara|B|']
D001479:Basal Ganglia D002114:Calcinosis D002675:Child, Preschool D004569:Electroencephalography D058975:Folate Receptor 1 D020022:Genetic Predisposition to Disease D006801:Humans D008279:Magnetic Resonance Imaging D008297:Male D009154:Mutation D013575:Syncope D014741:Video Recording
FOLR1 MTHF drop-attacks hypomyelination myoclonus