دورية أكاديمية
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder
| العنوان: | Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder |
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| المؤلفون: | Simsek, E., Kanmaz, S., Yılmaz, S., Durmaz, A., Serin, H.M., Gokben, S. |
| بيانات النشر: | Springer Science and Business Media Deutschland GmbH |
| سنة النشر: | 2023 |
| المجموعة: | Ege University Institutional Repository |
| مصطلحات موضوعية: | Epileptic encephalopathy, Cerebral folate deficiency, Folinic acid, FOLR1, Myoclonic seizure, 5 methyltetrahydrofolic acid, clobazam, clonazepam, corticosteroid, folate receptor 1, levetiracetam, rufinamide, valproic acid, FOLR1 protein, human, Article, ataxia, autism, brain cortex atrophy, case report, cerebral folate transporter deficiency, child, clinical article, cognition, drug dose increase, dysmetria, electroencephalography, electromyography, epilepsy, female |
| الوصف: | Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible. © 2021, Belgian Neurological Society. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0300-9009 |
| العلاقة: | Acta Neurologica Belgica; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90102Test; https://doi.org/10.1007/s13760-021-01700-7Test; 123; 121; 127 |
| DOI: | 10.1007/s13760-021-01700-7 |
| الإتاحة: | https://doi.org/10.1007/s13760-021-01700-7Test https://hdl.handle.net/11454/90102Test |
| حقوق: | none |
| رقم الانضمام: | edsbas.575D8F3 |
| قاعدة البيانات: | BASE |
| تدمد: | 03009009 |
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| DOI: | 10.1007/s13760-021-01700-7 |