Literature DB >> 8309589

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

D Walk1, S S Kang, A Horwitz.   

Abstract

We describe a patient with methylenetetrahydrofolate reductase (MTHFR) deficiency in whom clinical and electrophysiologic fluctuations paralleled exacerbations of hyperhomocyst(e)inemia. MRI demonstrated abnormalities characteristic of a leukodystrophy.

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Year:  1994        PMID： 8309589     DOI： 10.1212/wnl.44.2.344

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

1.  Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult.

Authors:  T Birnbaum; H J Blom; H Prokisch; M Hartig; T Klopstock
Journal:  J Neurol       Date:  2008-10-07       Impact factor: 4.849

2.  Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.

Authors:  Nan Lin; Nan Jiang; Yi Dai; Jing Gao; Lin Wang
Journal:  Neurol Sci       Date:  2016-04-27       Impact factor: 3.307

3.  MTHFR 677C>T effects on anterior cingulate structure and function during response monitoring in schizophrenia: a preliminary study.

Authors:  Joshua L Roffman; David G Brohawn; Jesse S Friedman; Kara A Dyckman; Katharine N Thakkar; Yigal Agam; Mark G Vangel; Donald C Goff; Dara S Manoach
Journal:  Brain Imaging Behav       Date:  2011-03       Impact factor: 3.978

Review 4.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

5.  Quantification of individual remyelination during short-term disease course by synthetic magnetic resonance imaging.

Authors:  Ruth Schneider; Britta Matusche; Theodoros Ladopoulos; Ilya Ayzenberg; Anne Sophie Biesalski; Ralf Gold; Barbara Bellenberg; Carsten Lukas
Journal:  Brain Commun       Date:  2022-06-28

Review 6.  Leukoencephalopathies associated with inborn errors of metabolism in adults.

Authors:  F Sedel; A Tourbah; B Fontaine; C Lubetzki; N Baumann; J-M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2008-02-25       Impact factor: 4.750
  6 in total

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