Hereditary diffuse leukoencephalopathy with axonal spheroids: Three patients with stroke-like presentation carrying new mutations in the CSF1R gene

Journal of Neurology

Volumn 261, Issue 4, 2014, Pages 768-772

  Battisti, Carla ^a   Di Donato, Ilaria ^a   Bianchi, Silvia ^a   Monti, Lucia ^b   Formichi, Patrizia ^a   Rufa, Alessandra ^a   Taglia, Ilaria ^a   Cerase, Alfonso ^b   Dotti, Maria Teresa ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Axonal spheroids; CSF1R; HDLS; Leukoencephalopathy; Presenile dementia

Indexed keywords

PROTEIN TYROSINE KINASE; COLONY STIMULATING FACTOR RECEPTOR;

ADULT; APATHY; APHASIA; ARTICLE; BEHAVIOR CHANGE; BRAIN ISCHEMIA; CASE REPORT; COGNITIVE DEFECT; CSF1R GENE; DIFFUSION WEIGHTED IMAGING; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEADACHE; HEMIPARESIS; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HETEROZYGOTE; HUMAN; LEUKOENCEPHALOPATHY; MALE; MENTAL DISEASE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; TRANSIENT ISCHEMIC ATTACK; AGED; CEREBROVASCULAR ACCIDENT; GENETICS; MENTAL DISORDERS; PATHOLOGY; PERSISTENT VEGETATIVE STATE; PSYCHOLOGY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MENTAL DISORDERS; MIDDLE AGED; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; PERSISTENT VEGETATIVE STATE; RECEPTORS, COLONY-STIMULATING FACTOR; STROKE;

EID: 84898881816     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7257-3     Document Type: Article

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