title: Brain parenchyma sonography detects preclinical parkinsonism.
abstract: Substantia nigra (SN) hyperechogenicity on brain parenchyma sonography (BPS) is highly characteristic for idiopathic PD. We studied 7 symptomatic and 7 asymptomatic parkin mutation carriers (PMC) from a large kindred with adult-onset parkinsonism. BPS revealed larger SN echogenic sizes in PMC with parkin mutations on both alleles (homozygous, compound-heterozygous), compared to PMC with only one mutated allele (Mann-Whitney U test, P = 0.007). In symptomatic PMC, larger SN echogenic size was correlated with younger age at onset of the disease (Spearman rank correlation, Rho = -0.937, P = 0.002) but not with age, disease duration, or disease severity. BPS demonstrated SN hyperechogenicity, in concordance with abnormal nigrostriatal (18)F-dopa positron emission tomography (PET), in all symptomatic and 3 asymptomatic PMC. In 2 asymptomatic PMC, PET and BPS were normal. However, in another 2 asymptomatic PET-normal PMC, SN hyperechogenicity could be detected. Data suggest SN hyperechogenicity as an early marker to detect preclinical parkinsonism.
authors.affiliation: Department of Neurology, University of Rostock, Rostock, Germany. uwe.walter@med.uni-rostock.de
authors.forename: Uwe
authors.initials: U
authors.lastname: Walter
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Ruediger
authors.initials: R
authors.lastname: Hilker
authors.forename: Reiner
authors.initials: R
authors.lastname: Benecke
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Dirk
authors.initials: D
authors.lastname: Dressler
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001921:Brain / Q000473:pathology; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals; D013378:Substantia Nigra / Q000000981:diagnostic imaging / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D014463:Ultrasonography
chemical_list: D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein