Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

Movement Disorders

Volumn 21, Issue 3, 2006, Pages 417-418

  Antonini, Angelo ^a   Goldwurm, Stefano ^a   Benti, Riccardo ^b   Prokisch, Holger ^c,d   Ebhardt, Monika ^c,d   Cilia, Roberto ^a   Zini, Michela ^a   Righini, Andrea ^a   Cossu, Giovanni ^e   Pezzoli, Gianni ^a  

^a PARKINSON INSTITUTE   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e San Michele Hospital   (Italy)

Author keywords

DatSCAN SPECT; Genetic; MRI; PKAN

Indexed keywords

DOPAMINE TRANSPORTER; HALOPERIDOL; LEVODOPA; NEUROLEPTIC AGENT; PANTOTHENATE KINASE; PIMOZIDE;

ADULT; AGITATION; ARTICLE; BRADYKINESIA; CASE REPORT; CHOREOATHETOSIS; DEGENERATIVE DISEASE; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DOPAMINERGIC TRANSMISSION; DYSARTHRIA; DYSKINESIA; DYSTONIA; GAIT DISORDER; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HALLERVORDEN SPATZ DISEASE; HAND TREMOR; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PARANOIA; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; RESTLESSNESS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

AGE FACTORS; BRAIN; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NERVE DEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; RADIOPHARMACEUTICALS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; TROPANES;

EID: 33645550639     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20774     Document Type: Article

References (8)

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