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Anterior lumbosacral polyradiculoneuropathy following intrathecal methotrexate administration: a case report and literature update.
Landolfi A, Vinciguerra C, Diana F, Murano F, Russillo MC, Barone P, Serio B, Piscosquito G. Landolfi A, et al. Neurol Sci. 2023 Feb;44(2):715-718. doi: 10.1007/s10072-022-06520-y. Epub 2022 Nov 23. Neurol Sci. 2023. PMID: 36418611 Review.
CASE PRESENTATION: A 23-year-old man who received diagnosis of acute lymphoblastic leukemia and started chemotherapy according to the LAL1913 protocol underwent CNS prophylaxis with intrathecal methotrexate. About 1 month after, he developed a flaccid paraparesis. CSF anal …
CASE PRESENTATION: A 23-year-old man who received diagnosis of acute lymphoblastic leukemia and started chemotherapy according to the LAL191 …
The effect of vitamin B supplementation on neuronal injury in people living with HIV: a randomized controlled trial.
Tyrberg E, Hagberg L, Andersson LM, Nilsson S, Yilmaz A, Mellgren Å, Blennow K, Zetterberg H, Gisslén M. Tyrberg E, et al. Brain Commun. 2022 Oct 15;4(6):fcac259. doi: 10.1093/braincomms/fcac259. eCollection 2022. Brain Commun. 2022. PMID: 36337345 Free PMC article.
This prompted us to perform this randomized controlled trial, to evaluate the effect of vitamin B supplementation on neuronal injury in a cohort of people living with HIV on stable antiretroviral therapy. ...Sixty-one fulfilled the inclusion criteria by having plasm …
This prompted us to perform this randomized controlled trial, to evaluate the effect of vitamin B supplementation on neuronal …
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV. Ramaekers VT, et al. Nutrients. 2022 Jul 28;14(15):3096. doi: 10.3390/nu14153096. Nutrients. 2022. PMID: 35956272 Free PMC article. Review.
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decre …
The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and/or Refractory Epilepsy.
Nemati H, Boroujeni AF, Inaloo S, Katibeh P, Shahriari M. Nemati H, et al. Neurol India. 2021 Sep-Oct;69(5):1343-1348. doi: 10.4103/0028-3886.329526. Neurol India. 2021. PMID: 34747809 Free article.
In addition, cerebral folate deficiency is associated with neurodevelopmental disorders. Studying the association of serum and cerebral folate deficiency with childhood neurodevelopmental disorders such as refractory epilepsy, developmental delay, and …
In addition, cerebral folate deficiency is associated with neurodevelopmental disorders. Studying the association of serum and …
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S, Simsek E, Yilmaz S, Durmaz A, Serin HM, Gokben S. Kanmaz S, et al. Acta Neurol Belg. 2023 Feb;123(1):121-127. doi: 10.1007/s13760-021-01700-7. Epub 2021 May 17. Acta Neurol Belg. 2023. PMID: 34002331
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
Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of fo …
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
Zhang C, Deng X, Wen Y, He F, Yin F, Peng J. Zhang C, et al. BMC Med Genet. 2020 Nov 26;21(1):235. doi: 10.1186/s12881-020-01162-3. BMC Med Genet. 2020. PMID: 33243190 Free PMC article.
BACKGROUND: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). ...Further laboratory tests demonstrated the extremely low level …
BACKGROUND: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methy …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Cerebral folate deficiency is typically defined as a deficiency of the major folate species 5-methyltetrahydrofolate in the cerebrospinal fluid (CSF) in the presence of normal peripheral total folate levels. However, it should be noted th …
Cerebral folate deficiency is typically defined as a deficiency of the major folate species 5-methyltetrahydrofo …
[Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review].
Zhang Y, Wang Q, Li DX, Liu YP, Song JQ, Li MQ, Qin YP, Yang YL. Zhang Y, et al. Zhonghua Er Ke Za Zhi. 2016 Dec 2;54(12):931-935. doi: 10.3760/cma.j.issn.0578-1310.2016.12.012. Zhonghua Er Ke Za Zhi. 2016. PMID: 27938595 Review. Chinese.
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. ...Low level of serum and CSF folate and screening SLC46A1 gene are keys to the etiologic study of t …
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary …
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.
Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J. Pan LA, et al. Am J Psychiatry. 2017 Jan 1;174(1):42-50. doi: 10.1176/appi.ajp.2016.15111500. Epub 2016 Aug 13. Am J Psychiatry. 2017. PMID: 27523499 Free PMC article.
Cerebral folate deficiency (N=12) was most common, with normal serum folate levels and low CSF 5-methyltetrahydrofolate (5-MTHF) levels. All patients with cerebral folate deficiency, including one with low CSF levels of 5-MTHF and …
Cerebral folate deficiency (N=12) was most common, with normal serum folate levels and low CSF 5-methyltetrahydr …
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.
Delmelle F, Thöny B, Clapuyt P, Blau N, Nassogne MC. Delmelle F, et al. Eur J Paediatr Neurol. 2016 Sep;20(5):709-13. doi: 10.1016/j.ejpn.2016.05.021. Epub 2016 Jun 13. Eur J Paediatr Neurol. 2016. PMID: 27328863
BACKGROUND: Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. ...CONCLUSIONS: This report illustrates that cerebral folate transporter deficiency caused by FOLR-1 mutations is a treatable condition and can po …
BACKGROUND: Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. ...CONCLUSIONS: This …
41 results