1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-19-24-b 10.15844/pedneurbriefs-19-3-11 Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Glial Protein Mutations in Alexander Disease http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 03 2005 01 03 2016 19 3 24 24 Copyright: © 2005 The Author(s) 2005 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

The role of glial fibrillary acidic protein (GFAP) mutations in Alexander disease was analyzed in 44 patients, including 18 with later onset, at the University of Alabama, Birmingham, AL, and at other centers in the US, UK and Europe.

 Glial Fibrillary Acidic Protein Alexander Disease Juvenile Variety

The role of glial fibrillary acidic protein (GFAP) mutations in Alexander disease was analyzed in 44 patients, including 18 with later onset, at the University of Alabama, Birmingham, AL, and at other centers in the US, UK and Europe. Missense mutations had been identified previously (Brenner M et al, 2001) in the GFAP gene in 11 of 12 infantile Alexander disease patients. Based on age at onset, patients were classified as infantile (<2 years old, 26 patients), juvenile (2-12 yrs, 15 pts), or adult (>13 yrs, 3 pts). Age at onset ranged from birth to 1.5 yrs for infantile, and from 2 to 11.5 yrs for juvenile. Clinical presentation of infantile cases included seizures (92%) and failure to meet milestones of development, with macrocephaly (62%), spasticity (52%), bulbar signs (62%), ataxia (58%), and cognitive defects (82%). Diagnosis was confirmed by pathology (Rosenthal fibers) or MRI. Dominant missense GFAP mutations were found in all forms of Alexander disease, with male predominance in the juvenile variety. [1]

Li R Johnson AB Salomons G Goldman JE Naidu S Quinlan R Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease Ann Neurol 2005 Mar 57 3 310 326 10.1002/ana.20406 15732097