title: Caudate nucleus atrophy in Huntington's disease and its relationship with clinical and genetic parameters.
abstract: We analysed clinical data in 80 genetically confirmed Huntington?s disease (HD) patients and measured the severity of the head of the caudate nucleus (HCN) atrophy using computed tomography-guided planimetry. The results were compared with measurements obtained in 43 age-matched healthy subjects. Mean planimetric measurements of the HCN differed significantly between the HD patients and healthy controls (p<0.001). We observed a significant inverse correlation between duration of HD and HCN planimetric values (p<0.001). Physiological atrophy of the HCN with age was also present in healthy controls, but did not overlap with values obtained in HD patients (p<0.01). Furthermore, we found in our patients a statistically significant inverse correlation between the number of CAG triplet repeats and the age at onset of HD (p<0.001). Neither the number of CAG triplet repeats, nor the age at onset of HD was found to be related to the character of the initial clinical symptoms (motor vs mental). Similarly, no relationship emerged between maternal or paternal inheritance and the number of CAG triplet repeats. Moreover, the type of inheritance did not influence the age at onset of HD in our patients. Planimetric measurement of the HCN appears to be a simple and useful paraclinical tool for the diagnosis of HD.
authors.affiliation: Department of Neurology, 1st Medical Faculty, Charles University, Prague, Czech Republic. roth@beba.cesnet.cz
authors.forename: Jan
authors.initials: J
authors.lastname: Roth
authors.forename: Jirí
authors.initials: J
authors.lastname: Klempìi
authors.forename: Robert
authors.initials: R
authors.lastname: Jech
authors.forename: Jana
authors.initials: J
authors.lastname: Zidovská
authors.forename: Tereza
authors.initials: T
authors.lastname: Uhrová
authors.forename: Pavel
authors.initials: P
authors.lastname: Doubek
authors.forename: Olga
authors.initials: O
authors.lastname: Ulmanová
authors.forename: Hana
authors.initials: H
authors.lastname: Brozová
authors.forename: Markéta
authors.initials: M
authors.lastname: Volfová
authors.forename: Tereza
authors.initials: T
authors.lastname: Serranová
authors.forename: Evzen
authors.initials: E
authors.lastname: Ruzicka
mesh_terms: D000328:Adult; D000375:Aging / Q000473:pathology / Q000502:physiology; D001284:Atrophy / Q000235:genetics; D002421:Caudate Nucleus / Q000033:anatomy & histology / Q000473:pathology*; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009929:Organ Size / Q000235:genetics; D012016:Reference Values; D018709:Statistics, Nonparametric