Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
We report on a patient with late-onset, pantothenate kinase-associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder.
Antonini
Angelo
A
Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan, Italy. angelo3000@yahoo.com
Goldwurm
Stefano
S
Benti
Riccardo
R
Prokisch
Holger
H
Ebhardt
Monika
M
Cilia
Roberto
R
Zini
Michela
M
Righini
Andrea
A
Cossu
Giovanni
G
Pezzoli
Gianni
G
D000367:Age Factors; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D050483:Dopamine Plasma Membrane Transport Proteins; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009410:Nerve Degeneration / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics; D019275:Radiopharmaceuticals / Q000493:pharmacokinetics; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes / Q000493:pharmacokinetics
D050483:Dopamine Plasma Membrane Transport Proteins; D019275:Radiopharmaceuticals; D014326:Tropanes; C087210:N-(3-iodopropen-1-yl)-2-carbomethoxy-3-(4-chlorophenyl)tropane; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase