A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

Journal of the Neurological Sciences

Volumn 342, Issue 1-2, 2014, Pages 173-177

  Nishida, Katsuya ^a   Garringer, Holly J ^b   Futamura, Naonobu ^a   Funakawa, Itaru ^a   Jinnai, Kenji ^a   Vidal, Ruben ^b   Takao, Masaki ^c,d  

^a National Hospital Organization Hyogo Chuo National Hospital   (Japan)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Tokyo Metropolitan Institute of Gerontology   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

Brain; Ferritin; Hereditary ferritinopathy; Iron; Neurodegeneration

Indexed keywords

BENZODIAZEPINE; FERRITIN; IOFETAMINE I 123; MUSCLE RELAXANT AGENT; PAEONIA RADIX; SHAKUYAKU KANZO TO; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG; VALPROIC ACID; APOFERRITIN; BIOLOGICAL MARKER;

ADULT; ARTICLE; BABINSKI REFLEX; BASAL GANGLION; BRAIN CORTEX; BRAIN PERFUSION; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; DEGENERATIVE DISEASE; DENTATE NUCLEUS; DNA SEQUENCE; DYSARTHRIA; DYSTONIA; EGG ALLERGY; EMOTIONAL INCONTINENCE; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GLOBUS PALLIDUS; HEADACHE; HERBAL MEDICINE; HUMAN; HYPERREFLEXIA; INTELLIGENCE QUOTIENT; JAPANESE (PEOPLE); LABORATORY TEST; LIGHT CHAIN; MALE; MENTAL DETERIORATION; MENTAL DISEASE; MILK ALLERGY; MUSCLE HYPOTONIA; NEUROFERRITINOPATHY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOSTATIC HYPOTENSION; OVARY CYST; PERFUSION; PHOTON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PUTAMEN; PYRAMIDAL SIGN; RED NUCLEUS; SLURRED SPEECH; SUSCEPTIBILITY WEIGHTED IMAGING; THALAMUS; WHEAT ALLERGY; CEREBROSPINAL FLUID; GENETICS; IRON METABOLISM DISORDERS; MUTATION; NEUROAXONAL DYSTROPHIES; NEUROIMAGING; PEDIGREE; SYMPTOM ASSESSMENT;

ADULT; APOFERRITINS; BIOLOGICAL MARKERS; FEMALE; FERRITINS; HUMANS; IRON METABOLISM DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROAXONAL DYSTROPHIES; NEUROIMAGING; PEDIGREE; SYMPTOM ASSESSMENT;

EID: 84902077006     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.03.060     Document Type: Article

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