Adult-onset Niemann-Pick type C disease: A clinical, neuroimaging, and molecular genetic study

Movement Disorders

Volumn 18, Issue 11, 2003, Pages 1405-1409

  Battisti, Carla ^a   Tarugi, Patrizla ^b   Dotti, Maria Teresa ^a   De Stefano, Nicola ^a   Vattimo, Angelo ^a   Chierichetti, Francesea ^c   Calandra, Sebastiano ^b   Federico, Antonio ^a,d  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c Castelfranco Hospital   (Italy)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Adult onset; Neuroimaging studies; NPC1

Indexed keywords

FILIPIN; LITHIUM CARBONATE; THIORIDAZINE;

ACCIDENT; ADULT; ANXIETY DISORDER; ARTICLE; BRAIN PERFUSION; CASE REPORT; CLINICAL FEATURE; CLINICAL STUDY; COGNITIVE DEFECT; CORRELATION FUNCTION; DEATH; DEPRESSION; DYSTONIA; EVOKED SOMATOSENSORY RESPONSE; GAIT DISORDER; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INJURY; MALE; MENTAL DISEASE; MOLECULAR GENETICS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; ATROPHY; BRAIN; CARRIER PROTEINS; COGNITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; NEUROPSYCHOLOGICAL TESTS; NIEMANN-PICK DISEASES; POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 1342347387     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10541     Document Type: Article

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