Link & Literatur

Wie kann ich mich tiefer in die CFTD-Thematik einarbeiten?

Es gibt über die einschägigen Suchmaschinen bereits unzählige Verweise zu den Themen Folate, Folate Deficency, Cerebral Folate Deficiency (CFD) oder Cerebral Folate Transport Deficiency (CFTD).

Wir konzentrieren uns hier bewußt auf die medizinisch-wissenschaftlichen Links & Publikationen zur Cerebrale-Folattransportdefizienz (CFTD) um Wissenschaftlern, behandelnden Ärzten und Betroffenen einen fundierten Einstieg in das Thema zu ermöglichen.

Link:

Literatur (nach Veröffentlichungsdatum):

Molero-Luis M, Serrano M, O’Callaghan MM, Sierra C, Pérez-Dueñas B,
García-Cazorla A, Artuch R. Clinical, etiological and therapeutic aspects of
cerebral folate deficiency. Expert Rev Neurother. 2015;15(7):793-802. doi:10.1586/14737175.2015.1055322. Epub 2015 Jun 19. Review. PubMed PMID: 26092490.

Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry
GT. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of
Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT)
Deficiency. JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.
PubMed PMID: 26006721; PubMed Central PMCID: PMC4582027.

Toelle SP, Wille D, Schmitt B, Scheer I, Thöny B, Plecko B. Sensory
stimulus-sensitive drop attacks and basal ganglia calcification: new findings in
a patient with FOLR1 deficiency. Epileptic Disord. 2014 Mar;16(1):88-92. doi:
10.1684/epd.2014.0629. PubMed PMID: 24556562.

Grapp M, Wrede A, Schweizer M, Hüwel S, Galla HJ, Snaidero N, Simons M,
Bückers J, Low PS, Urlaub H, Gärtner J, Steinfeld R. Choroid plexus transcytosis
and exosome shuttling deliver folate into brain parenchyma. Nat Commun.
2013;4:2123. doi: 10.1038/ncomms3123. PubMed PMID: 23828504.

Wang X, Cabrera RM, Li Y, Miller DS, Finnell RH. Functional regulation of
P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter
(PCFT) mutant mice. FASEB J. 2013 Mar;27(3):1167-75. doi: 10.1096/fj.12-218495.
Epub 2012 Dec 4. PubMed PMID: 23212123; PubMed Central PMCID: PMC3574287.

Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal A, Artuch R. Genetic causes of
cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug
Discov Today. 2012 Dec;17(23-24):1299-306. doi: 10.1016/j.drudis.2012.07.008.
Epub 2012 Jul 23. Review. PubMed PMID: 22835503.

Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J,
Steinfeld R. Molecular characterization of folate receptor 1 mutations delineates
cerebral folate transport deficiency. Brain. 2012 Jul;135(Pt 7):2022-31. doi:
10.1093/brain/aws122. Epub 2012 May 13. PubMed PMID: 22586289.

Dill P, Schneider J, Weber P, Trachsel D, Tekin M, Jakobs C, Thöny B, Blau N.
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate
deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and
microdontia (LAMM). Mol Genet Metab. 2011 Nov;104(3):362-8. doi:
10.1016/j.ymgme.2011.05.019. Epub 2011 Jun 2. PubMed PMID: 21752681.

Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra
C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R.
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and
etiologic aspects. Arch Neurol. 2011 May;68(5):615-21. doi:
10.1001/archneurol.2011.80. PubMed PMID: 21555636.

Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano
M, García-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic
epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit
Metab Dis. 2010 Dec;33(6):795-802. doi: 10.1007/s10545-010-9196-1. Epub 2010 Sep
21. PubMed PMID: 20857335.

Spector R, Johanson CE. Choroid plexus failure in the Kearns-Sayre syndrome.
Cerebrospinal Fluid Res. 2010 Aug 23;7:14. doi: 10.1186/1743-8454-7-14. PubMed
PMID: 20731822; PubMed Central PMCID: PMC2939631.

Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab
Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29.
Review. PubMed PMID: 20668945.

Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P,
Wevers R, Grosso S, Gärtner J. Folate receptor alpha defect causes cerebral
folate transport deficiency: a treatable neurodegenerative disorder associated
with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. doi:
10.1016/j.ajhg.2009.08.005. PubMed PMID: 19732866; PubMed Central PMCID:
PMC2771535.

Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, Herrero MD,
Vilaseca MA, Briones P, Ibáñez L, Montoya J, Artuch R. Cerebral folate deficiency
and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol. 2006
Feb;59(2):394-8. PubMed PMID: 16365882.

links