DIAGNOSTIC NEURORADIOLOGY Wilson’ s disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI Maria do Desterro Leiros da Costa & Mariana Spitz & Luiz Alberto Bacheschi & Claudia Costa Leite & Leandro Tavares Lucato & Egberto Reis Barbosa Received: 28 January 2009 / Accepted: 12 May 2009 / Published online: 29 May 2009 # Springer-Verlag 2009 Abstract Introduction Brain magnetic resonance imaging (MRI) studies on Wilson’ s disease (WD) show lack of correlations between neurological and neuroimaging features. Long- term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modal- ities of treatment are scarce. Methods Eighteen patients with neurological WD under- went pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: D- penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. Results MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density- weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symp- toms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, atax- ia, chorea, and athetosis. Conclusions From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. Keywords Wilson’ s disease . Neuroimaging . Treatment . Zinc . D-penicillamine Introduction Progressive hepatolenticular degeneration, named Wilson’ s disease (WD) in memoriam of Kinnear Wilson, who described its main clinical aspects in 1912 [1], is a treatable rare autosomal recessive inborn disorder of copper metab- olism where a deficient excretion of this metal from the liver is followed by its accumulation, initially in the liver and then in other tissues, particularly the brain, cornea, and kidneys [2, 3]. The gene responsible for this disease has been mapped to chromosome 13 [4]. The defect is in a metal-transporting P-type adenosine triphosphatase (ATPase), the ATP7B, which encodes a copper transporter. ATP7B is mainly expressed in the liver and mediates both copper secretion into plasma (coupled with ceruloplasmin Neuroradiology (2009) 51:627–633 DOI 10.1007/s00234-009-0536-5 M. d. D. Leiros da Costa Movement Disorders Unit, Federal University of Paraiba, Paraíba, Brazil M. Spitz : L. A. Bacheschi : E. R. Barbosa Movement Disorders Unit, University of São Paulo, São Paulo, Brazil C. C. Leite : L. T. Lucato Department of Radiology, University of São Paulo, São Paulo, Brazil M. d. D. Leiros da Costa (*) Rua Deputado Geraldo Mariz, 331, João Pessoa, Paraíba 58042-060, Brazil e-mail: mleiros@uol.com.br