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Sensory stimulus-sensitive drop attacks and basal ganglia calcification: New findings in a patient with FOLR1 deficiency


Toelle, Sandra P; Wille, David; Schmitt, Bernhard; Scheer, Ianina; Thöny, Beat; Plecko, Barbara (2014). Sensory stimulus-sensitive drop attacks and basal ganglia calcification: New findings in a patient with FOLR1 deficiency. Epileptic Disorders, 16(1):88-92.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:March 2014
Deposited On:30 Dec 2014 16:01
Last Modified:05 Apr 2016 18:42
Publisher:John Libbey Eurotext
ISSN:1294-9361
Publisher DOI:https://doi.org/10.1684/epd.2014.0629
PubMed ID:24556562

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