A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

Journal of Alzheimer's Disease

Volumn 47, Issue 2, 2015, Pages 319-322

  Di Donato, Ilaria ^a   Stabile, Carmen ^a   Bianchi, Silvia ^a   Taglia, Ilaria ^a   Mignarri, Andrea ^a   Salvatore, Simona ^a   Giorgio, Elisa ^b   Brusco, Alfredo ^b   Simone, Isabella ^c   Dotti, Maria Teresa ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF BARI   (Italy)

Author keywords

CSF1R; HDLS; leukoencephalopathy; presenile dementia

Indexed keywords

BETA1A INTERFERON; GENOMIC DNA; IMMUNOGLOBULIN G; METHYLPREDNISOLONE; COLONY STIMULATING FACTOR RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COGNITIVE DEFECT; CSF1R GENE; DEMENTIA; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; GENE; GENE MUTATION; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HUMAN; IMMUNOTHERAPY; LEUKOENCEPHALOPATHY; MALE; MULTIPLE SCLEROSIS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; QUADRIPLEGIA; SEQUENCE ANALYSIS; BRAIN; GENETICS; LEUKOENCEPHALOPATHIES; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

ADULT; BRAIN; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR;

EID: 84938678937     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-150097     Document Type: Article

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