A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

Journal of the Neurological Sciences

Volumn 334, Issue 1-2, 2013, Pages 192-195

  Inui, Toshio ^a   Kawarai, Toshitaka ^b   Fujita, Koji ^b   Kawamura, Kazuyuki ^a   Mitsui, Takao ^a   Orlacchio, Antonio ^c,d   Kamada, Masaki ^e   Abe, Takashi ^b   Izumi, Yuishin ^b   Kaji, Ryuji ^b  

^a Yoshinogawa   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

^e KAGAWA UNIVERSITY   (Japan)

Author keywords

Colony stimulating factor 1 receptor gene; Differential diagnosis; Genotype phenotype correlations; Hereditary diffuse leukoencephalopathy with spheroids; Primary progressive form of multiple sclerosis; White matter lesions

Indexed keywords

COLONY STIMULATING FACTOR 1 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; CYCLOPHOSPHAMIDE; METHYLPREDNISOLONE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; ASSISTED VENTILATION; CADASIL; CASE REPORT; DEMYELINATION; DYSPHAGIA; ENTERIC FEEDING; EVOKED SOMATOSENSORY RESPONSE; EXON; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS; HUMAN; IMMUNOTHERAPY; LEUKOENCEPHALOPATHY; LUMBAR PUNCTURE; MALE; MISSENSE MUTATION; MULTIPLE SCLEROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPEECH DISORDER; TUMOR SPHEROID; WHITE MATTER LESION;

COLONY STIMULATING FACTOR 1 RECEPTOR GENE; DIFFERENTIAL DIAGNOSIS; GENOTYPE-PHENOTYPE CORRELATIONS; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS; PRIMARY PROGRESSIVE FORM OF MULTIPLE SCLEROSIS; WHITE MATTER LESIONS;

ADULT; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE; MUTATION, MISSENSE; NERVE FIBERS, MYELINATED; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR;

EID: 84887469798     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.08.020     Document Type: Article

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