title: Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases.
abstract: Wilson's disease (WD) is a hereditary disorder caused by ATP7B mutations resulting in systemic copper accumulation. WD may manifest as early-adulthood parkinsonism; and atypical cases may be difficult to distinguish from early-onset Parkinson's disease (EO-PD), a neurodegenerative disorder with onset ≤40 years of age. The aim of our study was to compare transcranial sonography (TCS)-magnetic resonance fusion imaging in WD and EO-PD and examine whether TCS can provide clinically useful information.
  
  
  
  We examined 22 WD, 16 EO-PD, and 24 healthy control subjects. We measured echogenicity and determined presence of MRI signal changes in T2-weighted images in the substantia nigra (SN) and lentiform nucleus (NL). TCS with the capability of magnetic resonance fusion and Virtual Navigator was used. The echogenicity indices of SN and NL were processed using digital image analysis to eliminate subjective evaluation errors.
  
  
  
  Mean SN echogenicity index in EO-PD (39.8 ± 5.9 [SD]) was higher compared to WD (28.0 ± 4.6, p < 0.0001) and control subjects (28.8 ± 4.9, p < 0.0001). Mean NL echogenicity index was higher in WD (117.5 ± 37.0) compared to EO-PD (61.6 ± 5.4, p < 0.0001) and control subjects (54.9 ± 11.2, p < 0.0001). The SN hyperechogenicity had sensitivity 93.8%, and specificity 90.9%, while the NL hyperechogenicity had sensitivity 95.5% and specificity 93.8% for differentiation of WD and EO-PD. NL hyperechogenicity was more pronounced in WD subjects with putaminal MRI T2 hyperintensity (p < 0.05) but was also present in subjects without MRI abnormality.
  
  
  
  There are distinct TCS findings in WD and EO-PD complementary to MRI that can be utilized as highly sensitive and specific biomarkers of these disorders.
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Mašková
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic; Department of Nursing, Faculty of Health Science, Palacky University Olomouc, Tř. Svobody 8, 771 11, Olomouc, Czech Republic.
authors.forename: David
authors.initials: D
authors.lastname: Školoudík
authors.affiliation: Department of Radiology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Andrea
authors.initials: A
authors.lastname: Burgetová
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic; Institute of Neuropsychiatric Care (INEP), Křižíkova 264/22, 186 00, Prague, Czech Republic.
authors.forename: Ondřej
authors.initials: O
authors.lastname: Fiala
authors.affiliation: 4th Department of Internal Medicine, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague, Czech Republic.
authors.forename: Radan
authors.initials: R
authors.lastname: Brůha
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Ke Karlovu 2, 121 00, Prague, Czech Republic.
authors.forename: Daniela
authors.initials: D
authors.lastname: Záhoráková
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Tereza
authors.initials: T
authors.lastname: Serranová
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Matěj
authors.initials: M
authors.lastname: Slovák
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Olga
authors.initials: O
authors.lastname: Ulmanová
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic.
authors.forename: Evžen
authors.initials: E
authors.lastname: Růžička
authors.affiliation: Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 128 21, Prague, Czech Republic; Institute of Neuroradiology, Universitaetsmedizin Goettingen, Robert-Koch-Str. 40, 37075, Goettingen, Germany. Electronic address: petr.dusek@vfn.cz.
authors.forename: Petr
authors.initials: P
authors.lastname: Dušek
mesh_terms: D000328:Adult; D015415:Biomarkers; D003342:Corpus Striatum / Q000000981:diagnostic imaging*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000000981:diagnostic imaging*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000592:standards*; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D010300:Parkinson Disease / Q000000981:diagnostic imaging*; D012680:Sensitivity and Specificity; D017585:Ultrasonography, Doppler, Transcranial / Q000592:standards*
chemical_list: D015415:Biomarkers
keywords: Copper; Early-onset Parkinson's disease; MRI; Transcranial sonography; Wilson's disease