Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation

American Journal of Neuroradiology

Volumn 31, Issue 9, 2010, Pages

  Biancheri, R ^a   Rossi, D ^a   Cassandrini, D ^a   Rossi, A ^a   Bruno, C ^b   Santorelli, F M ^b  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CITRATE SYNTHASE; CREATINE; LACTIC ACID; N ACETYLASPARTIC ACID;

CASE REPORT; CATARACT; CHILD; DNA DETERMINATION; DYSPHAGIA; ELECTROENCEPHALOGRAPHY; ENZYME HISTOCHEMISTRY; EYE SURGERY; FEEDING DISORDER; FIBROBLAST; GASTROSTOMY; GENE MUTATION; HUMAN; LETTER; LEUKOENCEPHALOPATHY; MERRF SYNDROME; MUSCLE BIOPSY; MUSCLE HYPERTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OUTCOME ASSESSMENT; PRESCHOOL CHILD; RESPIRATORY CHAIN;

BRAIN; DNA, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA; MUTATION;

EID: 77958528546     PISSN: 01956108     EISSN: 1936959X     Source Type: Journal    
DOI: 10.3174/ajnr.A2182     Document Type: Letter

References (4)

1. Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-59
2. Orcesi S, Gorni K, Termine C, et al. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERFF) mutation: an infantile case. J Child Neurol 2006;21:79-82 (Pubitemid 43778772)
3. Massa V, Fernandez-Vizarra E, Alshahwan S, et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome C oxidase. Am J Hum Genet 2008;82:1281-89. Epub 2008 May 22
4. Naidu S, Bibat G, Lin D, et al. Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol 2005;58:929-38