Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.

Bassuk, A G; Joshi, A; Burton, B K; Larsen, M B; Burrowes, D M; Stack, C

Bassuk, A G; Joshi, A; Burton, B K; Larsen, M B; Burrowes, D M; Stack, C.

Affiliation

Bassuk AG; Division of Neurology/Department of Pediatrics, Children's Memorial Hospital, Chicago, IL 60614, USA. abassuk@childrensmemorial. org

Neurology ; 61(7): 1014-5, 2003 Oct 14.

Article in En | MEDLINE | ID: mdl-14557587

Subject(s)

Alexander Disease/diagnosis; Alexander Disease/genetics; Glial Fibrillary Acidic Protein/genetics; Acidosis, Respiratory/etiology; Alexander Disease/metabolism; Basal Ganglia/metabolism; Basal Ganglia/pathology; Choline/metabolism; Creatine/metabolism; DNA Mutational Analysis; Disease Progression; Electroencephalography; Fatal Outcome; Frontal Lobe/metabolism; Frontal Lobe/pathology; Head/abnormalities; Humans; Infant; Lactic Acid/metabolism; Lipid Metabolism; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Mutation; Seizures/etiology

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Collection: 01-internacional Database: MEDLINE Main subject: Alexander Disease / Glial Fibrillary Acidic Protein Type of study: Etiology_studies Limits: Humans / Infant / Male Language: En Journal: Neurology Year: 2003 Document type: Article Country of publication: United States

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