Literature DB >> 12509855

Atypical focal MRI lesions in a case of juvenile Alexander's disease.

Eva Neumaier Probst1, Christian Hagel, Vanja Weisz, Sandra Nagel, Oliver Wittkugel, Hermann Zeumer, Alfried Kohlschütter.   

Abstract

We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.

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Year:  2003        PMID： 12509855     DOI： 10.1002/ana.10382

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  9 in total

1.  Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Authors:  Tomokatsu Yoshida; Masayuki Sasaki; Mari Yoshida; Michito Namekawa; Yuji Okamoto; Seiichi Tsujino; Hiroshi Sasayama; Ikuko Mizuta; Masanori Nakagawa
Journal:  J Neurol       Date:  2011-05-01       Impact factor: 4.849

2.  The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.

Authors:  Tomokatsu Yoshida; Yasuko Tomozawa; Takayo Arisato; Yuji Okamoto; Hirofumi Hirano; Masanori Nakagawa
Journal:  J Hum Genet       Date:  2007-02-22       Impact factor: 3.172

3.  Can MR imaging diagnose adult-onset Alexander disease?

Authors:  L Farina; D Pareyson; L Minati; I Ceccherini; L Chiapparini; S Romano; P Gambaro; R Fancellu; M Savoiardo
Journal:  AJNR Am J Neuroradiol       Date:  2008-04-03       Impact factor: 3.825

Review 4.  Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

Authors:  Michito Namekawa; Yoshihisa Takiyama; Junko Honda; Haruo Shimazaki; Kumi Sakoe; Imaharu Nakano
Journal:  BMC Neurol       Date:  2010-04-01       Impact factor: 2.474

5.  Alexander disease: a leukodystrophy caused by a mutation in GFAP.

Authors:  Anne B Johnson
Journal:  Neurochem Res       Date:  2004-05       Impact factor: 3.996

6.  Adult-onset Alexander disease : report on a family.

Authors:  Pietro Balbi; Marco Seri; Isabella Ceccherini; Carla Uggetti; Roberto Casale; Cira Fundarò; Francesco Caroli; Lucio Santoro
Journal:  J Neurol       Date:  2007-11-21       Impact factor: 4.849

Review 7.  Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

Authors:  Scott D Spritzer; Srijana Zarkou; Stephen P Ireland; Jonathon L Carter; Brent P Goodman
Journal:  Clin Auton Res       Date:  2013-08-08       Impact factor: 4.435

8.  Alexander disease: An important mimicker of focal brainstem glioma.

Authors:  Katherine Van Poppel; Alberto Broniscer; Zoltan Patay; E Brannon Morris
Journal:  Pediatr Blood Cancer       Date:  2009-12-15       Impact factor: 3.167

9.  Neuroimaging and clinical features in type II (late-onset) Alexander disease.

Authors:  Jonathan Graff-Radford; Kara Schwartz; Ralitza H Gavrilova; Daniel H Lachance; Neeraj Kumar
Journal:  Neurology       Date:  2013-12-04       Impact factor: 9.910
  9 in total

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