Early mitochondrial dysfunction in an infant with Alexander disease
| Autor: | Cristina Cáceres-Marzal, Julián Vaquerizo, Santiago Fernández, Enrique Galán |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Pathology
medicine.medical_specialty Biopsy Mutation Missense Cytochrome-c Oxidase Deficiency Central nervous system disease Diagnosis Differential Degenerative disease Developmental Neuroscience Glial Fibrillary Acidic Protein medicine Missense mutation Humans Lactic Acid Muscle Skeletal Muscle biopsy medicine.diagnostic_test Glial fibrillary acidic protein biology business.industry Macrocephaly Brain Infant Mitochondrial Myopathies medicine.disease Magnetic Resonance Imaging Hypotonia Alexander disease Mitochondria Muscle Neurology Pediatrics Perinatology and Child Health biology.protein Muscle Hypotonia Female Neurology (clinical) Alexander Disease medicine.symptom business |
| Zdroj: | Pediatric neurology. 35(4) |
| ISSN: | 0887-8994 |
| Popis: | Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene. This case reports a female who presented at the age of 5 months with refractory epilepsy and hypotonia. Laboratory examinations, muscle biopsy examination, and energetic metabolic study in muscle indicated increased concentrations of lactate, mitochondria with structural abnormalities, and decreased cytochrome-c oxidase activity respectively. Later, both clinical course and magnetic resonance findings were compatible with Alexander disease, which was confirmed by the finding of a novel glial fibrillary acidic protein gene mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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