Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

Journal of the Neurological Sciences

Volumn 349, Issue 1-2, 2015, Pages 232-238

  Kim, Eun Joo ^a   Shin, Jin Hong ^b   Lee, Jeong Hee ^b   Kim, Jong Hun ^c   Na, Duk L ^d   Suh, Yeon Lim ^d   Hwang, Sun Jae ^b   Lee, Jae Hyeok ^b   Lee, Young Min ^a   Shin, Myung Jun ^a   Lee, Myung Jun ^a   Kim, Seong Jang ^a   Yoon, Uicheul ^e   Park, Do Youn ^a   Jung, Dae Soo ^a   Ahn, Jae Woo ^b   Sung, Suk ^f   Huh, Gi Yeong ^f  

^a Pusan National University Hospital   (South Korea)

^b Pusan National University Yangsan Hospital   (South Korea)

^c National Health Insurance Corporation   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

^e Catholic University of Daegu   (South Korea)

^f Pusan National University School of Medicine   (South Korea)

Author keywords

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP); CSF1R; Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS); Leukoencephalopathy; Pigmentary orthochromatic leukodystrophy (POLD); Young onset dementia

Indexed keywords

COLONY STIMULATING FACTOR 1 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; CORTICOSTEROID; FLUORODEOXYGLUCOSE F 18; LIOTHYRONINE; PREDNISOLONE; STEROID; TECHNETIUM 99M; THYROTROPIN; THYROTROPIN RECEPTOR ANTIBODY; UNCLASSIFIED DRUG;

ABNORMAL BEHAVIOR; ADULT; ADULT ONSET LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID AND PIGMENTED GLIA; AGGRESSION; AGRAPHESTHESIA; AKINETIC MUTISM; ANOMIA; APATHY; ARM WEAKNESS; ARTICLE; AUTOPSY; BABINSKI REFLEX; BEHAVIOR CHANGE; BRADYKINESIA; BRAIN ATROPHY; BRAIN WEIGHT; CASE REPORT; CLINICAL DEMENTIA RATING; COGNITIVE DEFECT; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEMENTIA; DISEASE SEVERITY ASSESSMENT; DRUG MEGADOSE; DYSARTHRIA; ECHOGRAPHY; FATHER; FEMALE; FOLLOW UP; FREE THYROXINE INDEX; GENE MUTATION; GLOBAL DETERIORATION SCALE; HAND TREMOR; HASHIMOTO ENCEPHALOPATHY; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HUMAN; IDEOMOTOR APRAXIA; IRRITABILITY; KOREAN (PEOPLE); LABORATORY TEST; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; LIMB WEAKNESS; LIMITED MOBILITY; MALE; MEDICAL RECORD; MENTAL INSTABILITY; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MULTIPLE SCLEROSIS; NEUROIMAGING; NORMOTENSIVE HYDROCEPHALUS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSESSION; PARAPLEGIA; PATIENT PREFERENCE; PERSISTENT VEGETATIVE STATE; PIGMENTARY ORTHOCHROMATIC LEUKODYSTROPHY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RIGHT HANDEDNESS; SENSORY DYSFUNCTION; SEPTIC SHOCK; SPASTIC GAIT; SPINOCEREBELLAR DEGENERATION; STUTTERING; THYROID CANCER; THYROID FUNCTION TEST; THYROID SCINTISCANNING; THYROIDECTOMY; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; COMPLICATION; GENETICS; GLIA; MUTATION; NERVE FIBER; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PROCEDURES; TREMOR;

ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; AXONS; BRAIN; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MUTATION; NEUROGLIA; NEUROIMAGING; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; TREMOR;

EID: 84923846594     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.12.021     Document Type: Article

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