Literature DB >> 11182276

Update on genetic disorders affecting white matter.

E M Kaye1.   

Abstract

The classification of diseases affecting white matter has changed dramatically with the use of magnetic resonance imaging. Classical leukodystrophies, such as metachromatic leukodystrophy and Krabbe's disease, account for only a small number of inherited diseases that affect white matter. Magnetic resonance imaging has clarified genetic disorders that result in white matter changes or leukoencephalopathies. The term leukoencephalopathy is used to reflect the broader number of diseases that may cause as either primary or secondary changes in myelin development. This review attempts to categorize white matter disorders into classes such as lipid, myelin protein, organic acids, and defects in energy metabolism, in addition to other causes.

Entities:  

Mesh:

Year:  2001        PMID: 11182276     DOI: 10.1016/s0887-8994(00)00232-0

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  22 in total

1.  Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.

Authors:  Jesse J Winters; Cole J Ferguson; Guy M Lenk; Vessela I Giger-Mateeva; Peter Shrager; Miriam H Meisler; Roman J Giger
Journal:  J Neurosci       Date:  2011-11-30       Impact factor: 6.167

2.  The contributions of myelin and axonal caliber to transverse relaxation time in shiverer and neurofilament-deficient mouse models.

Authors:  Victor V Dyakin; Yuanxin Chen; Craig A Branch; Aidong Yuan; Mala Rao; Asok Kumar; Corrinne M Peterhoff; Ralph A Nixon
Journal:  Neuroimage       Date:  2010-03-11       Impact factor: 6.556

Review 3.  Cell replacement therapy in neurological disease.

Authors:  Steven A Goldman; Martha S Windrem
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2006-09-29       Impact factor: 6.237

4.  Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

Authors:  Sandeep Kumar; Shrikiran Aroor; Suneel Mundkur; Maneesh Kumar
Journal:  BMJ Case Rep       Date:  2014-03-06

5.  Metachromatic leukodystrophy: diffusion MR imaging findings.

Authors:  R Nuri Sener
Journal:  AJNR Am J Neuroradiol       Date:  2002-09       Impact factor: 3.825

6.  Determinants of health care use in a population-based leukodystrophy cohort.

Authors:  Clint Nelson; Michael B Mundorff; E Kent Korgenski; Cameron J Brimley; Rajendu Srivastava; Joshua L Bonkowsky
Journal:  J Pediatr       Date:  2012-10-13       Impact factor: 4.406

7.  Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Authors:  Natsuko Arai-Ichinoi; Mitsugu Uematsu; Ryo Sato; Tasuku Suzuki; Hiroki Kudo; Atsuo Kikuchi; Naomi Hino-Fukuyo; Mitsuyo Matsumoto; Kazuhiko Igarashi; Kazuhiro Haginoya; Shigeo Kure
Journal:  Hum Genet       Date:  2015-11-23       Impact factor: 4.132

8.  Diagnostic criteria for pediatric multiple sclerosis.

Authors:  Jennifer P Rubin; Nancy L Kuntz
Journal:  Curr Neurol Neurosci Rep       Date:  2013-06       Impact factor: 5.081

9.  Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

Authors:  Shawn M Purnell; Steven B Bleyl; Joshua L Bonkowsky
Journal:  Pediatr Neurol       Date:  2014-02-10       Impact factor: 3.372

10.  Vacuolating megalencephalic leukoencephalopathy with mild clinical course validated by diffusion tensor imaging and MR spectroscopy.

Authors:  Yi-Fang Tu; Cheng-Yu Chen; Chao-Ching Huang; Chang-Shin Lee
Journal:  AJNR Am J Neuroradiol       Date:  2004 Jun-Jul       Impact factor: 3.825

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