Literature DB >> 27118298

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

Nan Lin1, Nan Jiang1, Yi Dai1, Jing Gao1, Lin Wang2.   

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Year:  2016        PMID： 27118298     DOI： 10.1007/s10072-016-2580-3

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

1.  Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

Authors:  Alexander Lossos; Omri Teltsh; Tsipi Milman; Vardiella Meiner; Rima Rozen; Daniel Leclerc; Bernd C Schwahn; Natalya Karp; David S Rosenblatt; David Watkins; Avraham Shaag; Stanley H Korman; Samuel N Heyman; Aya Gal; J P Newman; Bettina Steiner-Birmanns; Oded Abramsky; Yoav Kohn
Journal:  JAMA Neurol       Date:  2014-07-01       Impact factor: 18.302

Review 2.  Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Authors:  Asuri N Prasad; Charles A Rupar; Chitra Prasad
Journal:  Brain Dev       Date:  2011-07-22       Impact factor: 1.961

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

Authors:  D Walk; S S Kang; A Horwitz
Journal:  Neurology       Date:  1994-02       Impact factor: 9.910

Review 4.  The use of betaine in the treatment of elevated homocysteine.

Authors:  Amy Lawson-Yuen; Harvey L Levy
Journal:  Mol Genet Metab       Date:  2006-03-20       Impact factor: 4.797

5.  Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

Authors:  L A Kluijtmans; U Wendel; E M Stevens; L P van den Heuvel; F J Trijbels; H J Blom
Journal:  Eur J Hum Genet       Date:  1998 May-Jun       Impact factor: 4.246
  5 in total
  3 in total

1.  Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Authors:  Jiannan Chen; Zhe Zhao; Hongrui Shen; Qi Bing; Nan Li; Xuan Guo; Jing Hu
Journal:  BMC Neurol       Date:  2022-05-16       Impact factor: 2.903

2.  Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Authors:  Hansashree Padmanabha; Rohan Mahale; Rita Christopher; Gautham Arunachal; Maya Bhat; Mahammad Samim Mondal; Ram Murthy Anjanappa; Ravindranadh Chowdhary Mundlamuri; Ravi Yadav; Seena Vengalil; Pooja Mailankody; Pavagada S Mathuranath; Sadanandavalli R Chandra; Atchayaram Nalini
Journal:  Ann Indian Acad Neurol       Date:  2021-12-14       Impact factor: 1.383

3.  Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.

Authors:  Kai-Jie Chang; Zhe Zhao; Hong-Rui Shen; Qi Bing; Nan Li; Xuan Guo; Jing Hu
Journal:  Neurol Sci       Date:  2020-09-30       Impact factor: 3.830
  3 in total

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