Literature DB >> 25610205

Juvenile alexander disease: a case report.

Halit Ozkaya1, Abdullah Baris Akcan1, Gokhan Aydemir1, Mustafa Kul1, Secil Aydinoz1, Ferhan Karademir1, Selami Suleymanoglu1.   

Abstract

Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults. It is characterized by megalencephaly, demyelinization and multiple Rosenthal fibers. Specific magnetic resonance imaging (MRI) findings and genetic investigations are necessary to diagnose the disorder. Signs of leukodystrophy were found in the bilateral white matter on a brain MRI of our four-year-old patient. He had megalencephaly since birth. We use this case to discuss Alexander disease.

Entities:  

Keywords:  Alexander disease; Leukodystrophy; Megalencephaly; Pediatric neurology

Year:  2012        PMID: 25610205      PMCID: PMC4261412          DOI: 10.5152/eajm.2012.10

Source DB:  PubMed          Journal:  Eurasian J Med        ISSN: 1308-8734


  17 in total

Review 1.  Small heat shock proteins, the cytoskeleton, and inclusion body formation.

Authors:  M W Head; J E Goldman
Journal:  Neuropathol Appl Neurobiol       Date:  2000-08       Impact factor: 8.090

2.  Alexander disease--classification revisited and isolation of a neonatal form.

Authors:  S Springer; R Erlewein; T Naegele; I Becker; D Auer; W Grodd; I Krägeloh-Mann
Journal:  Neuropediatrics       Date:  2000-04       Impact factor: 1.947

3.  Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA.

Authors:  A Iwaki; T Iwaki; J E Goldman; K Ogomori; J Tateishi; Y Sakaki
Journal:  Neurosci Lett       Date:  1992-06-08       Impact factor: 3.046

4.  Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

Authors:  W S ALEXANDER
Journal:  Brain       Date:  1949-09       Impact factor: 13.501

Review 5.  Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000).

Authors:  L F Eng; R S Ghirnikar; Y L Lee
Journal:  Neurochem Res       Date:  2000-10       Impact factor: 3.996

6.  Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain.

Authors:  T Iwaki; A Kume-Iwaki; R K Liem; J E Goldman
Journal:  Cell       Date:  1989-04-07       Impact factor: 41.582

7.  Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold.

Authors:  N Tomokane; T Iwaki; J Tateishi; A Iwaki; J E Goldman
Journal:  Am J Pathol       Date:  1991-04       Impact factor: 4.307

8.  A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.

Authors:  Takashi Kinoshita; Toshihiro Imaizumi; Yumiko Miura; Hiroshi Fujimoto; Mitsuyoshi Ayabe; Hiroshi Shoji; Yuji Okamoto; Hiroshi Takashima; Mitsuhiro Osame; Masanori Nakagawa
Journal:  Neurosci Lett       Date:  2003-10-30       Impact factor: 3.046

9.  Overexpression and abnormal modification of the stress proteins alpha B-crystallin and HSP27 in Alexander disease.

Authors:  M W Head; E Corbin; J E Goldman
Journal:  Am J Pathol       Date:  1993-12       Impact factor: 4.307

10.  Alexander disease.

Authors:  Neil Gordon
Journal:  Eur J Paediatr Neurol       Date:  2003       Impact factor: 3.140

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