Infantile-Onset Alexander Disease-Reference-Cited by-同舟云学术

Infantile-Onset Alexander Disease

Published:2012-05-07 Issue:3 Volume:28 Page:396-398
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Ramesh Konanki¹,Sharma Suvasini¹,Kumar Atin²,Salomons Gajja S.³,van der Knaap Marjo S.⁴,Gulati Sheffali¹

Affiliation:

1. Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India

2. Department of Radio-diagnosis, All India Institute of Medical Sciences, New Delhi, India

3. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, the Netherlands

4. Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands

Abstract

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073812444313

Reference8 articles.

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

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

3. Unusual variants of Alexander's disease

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