Literature DB >> 25584279

Infantile onset alexander disease with normal head circumference: a genetically proven case report.

Manisha Goyal1, Sumit Mehndiratta2, Mohammed Faruq3, Manish Kumar Dwivedi4, Seema Kapoor5.   

Abstract

Alexander disease (AD) is an autosomal dominant leukodystrophy which predominantly affects infants and children. The infantile form comprises the most common form of AD. It presents before two years of age and characterized by macrocephaly, psychomotor regression, spasticity, pyramidal sign, ataxia and seizures. The diagnosis is based on magnetic resonance imaging (MRI) findings and confirmed by Glial fibrillary acidic protein (GFAP) gene molecular testing. We report an Indian case with normal head circumference.

Entities:  

Keywords:  Leukodystrophy; Macrocephaly; Psychomotor regression

Year:  2014        PMID： 25584279      PMCID： PMC4290301          DOI： 10.7860/JCDR/2014/10211.5200

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN： 0973-709X


  10 in total

Review 1.  Alexander's disease: reassessment of a neonatal form.

Authors:  Navneet Singh; Catherine Bixby; Denzil Etienne; R Shane Tubbs; Marios Loukas
Journal:  Childs Nerv Syst       Date:  2012-08-14       Impact factor: 1.475

2.  Alexander disease: diagnosis with MR imaging.

Authors:  M S van der Knaap; S Naidu; S N Breiter; S Blaser; H Stroink; S Springer; J C Begeer; R van Coster; P G Barth; N H Thomas; J Valk; J M Powers
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

3.  Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

Authors:  J R Gorospe; S Naidu; A B Johnson; V Puri; G V Raymond; S D Jenkins; R C Pedersen; D Lewis; P Knowles; R Fernandez; D De Vivo; M S van der Knaap; A Messing; M Brenner; E P Hoffman
Journal:  Neurology       Date:  2002-05-28       Impact factor: 9.910

4.  Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Authors:  Rong Li; Anne B Johnson; Gajja Salomons; James E Goldman; Sakkubai Naidu; Roy Quinlan; Bruce Cree; Stephanie Z Ruyle; Brenda Banwell; Marc D'Hooghe; Joseph R Siebert; Cristin M Rolf; Helen Cox; Alyssa Reddy; Luis González Gutiérrez-Solana; Amanda Collins; Roy O Weller; Albee Messing; Marjo S van der Knaap; Michael Brenner
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

5.  Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Authors:  D Rodriguez; F Gauthier; E Bertini; M Bugiani; M Brenner; S N'guyen; C Goizet; A Gelot; R Surtees; J M Pedespan; X Hernandorena; M Troncoso; G Uziel; A Messing; G Ponsot; D Pham-Dinh; A Dautigny; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2001-09-20       Impact factor: 11.025

6.  Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Authors:  Daniella Nishri; Simon Edvardson; Dorit Lev; Esther Leshinsky-Silver; Liat Ben-Sira; Marco Henneke; Tally Lerman-Sagie; Lubov Blumkin
Journal:  Eur J Paediatr Neurol       Date:  2014-04-08       Impact factor: 3.140

Review 7.  The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature.

Authors:  J Jacob; N J Robertson; D A Hilton
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-06       Impact factor: 10.154

8.  Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Authors:  M Brenner; A B Johnson; O Boespflug-Tanguy; D Rodriguez; J E Goldman; A Messing
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

9.  GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Authors:  F Caroli; R Biancheri; M Seri; A Rossi; A Pessagno; M Bugiani; F Corsolini; S Savasta; S Romano; C Antonelli; A Romano; D Pareyson; P Gambero; G Uziel; R Ravazzolo; I Ceccherini; M Filocamo
Journal:  Clin Genet       Date:  2007-09-25       Impact factor: 4.438

10.  Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.

Authors:  Mahmoud-Reza Ashrafi; Alireza Tavasoli; Omid Aryani; Hooman Alizadeh; Massoud Houshmand
Journal:  Iran J Pediatr       Date:  2013-08       Impact factor: 0.364
  10 in total
  3 in total

1.  Infantile Alexander Disease: Case Report and Review of Literature.

Authors:  Soumyabrata Sarkar; Rupam Sinha; Amitabha Chakraborty; Tanya Khaitan; Biyas Bhowmik
Journal:  J Clin Diagn Res       Date:  2017-06-01

Review 2.  Heterogeneity of white matter astrocytes in the human brain.

Authors:  Marianna Bugiani; Bonnie C Plug; Jodie H K Man; Marjolein Breur; Marjo S van der Knaap
Journal:  Acta Neuropathol       Date:  2021-12-08       Impact factor: 17.088

Review 3.  Astrocyte heterogeneity in the brain: from development to disease.

Authors:  Clarissa Schitine; Luciana Nogaroli; Marcos R Costa; Cecilia Hedin-Pereira
Journal:  Front Cell Neurosci       Date:  2015-03-20       Impact factor: 5.505
  3 in total

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