Cerebral Folate Deficiency & Receptor Mutations
نویسندگان
چکیده
منابع مشابه
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children with low 5-methyltetrahydrofolate concentrations in the cerebrospinal fluid and neurol...
متن کاملCerebral folate deficiency syndrome.
to the editor: Ramaekers et al. (May 12 issue)1 report 28 patients with the cerebral folate deficiency syndrome characterized by decreased levels of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid caused by autoantibodies’ blocking of folate transport into the brain. The patients benefited from folinic acid supplementation. The clinical features of this syndrome fit with other neuro...
متن کاملCerebral folate deficiency.
Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. CFD could result from either disturbed folate transport or from increased folate turnover within the central nervous system (CNS). We repo...
متن کاملAdult-onset cerebral folate deficiency.
OBJECTIVE To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult. DESIGN Case report. SETTING University teaching hospital. PATIENT A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofola...
متن کاملFolate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.
Reduced folate transport to the CNS was identified in two autism spectrum disorders, i.e., Rett syndrome and infantile low-functioning autism with neurological abnormalities. Twenty-five patients with early-onset low-functioning autism with or without neurological deficits, were evaluated for serum folate, cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), and serum FR autoantibodies o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2012
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-26-9-6