Cranial MRI in Wilson's disease

Abstract

Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonance-imaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition--a proton-electron-dipolar-dipolar-interaction would therefore be impossible.

Postural tremor in Wilson's disease: A magnetoencephalographic study

“…Typical MR findings with no correlation to the clinical neurological symptoms were described in a collective of 38 patients. 22 In contrast, another MRI study of 47 patients identified three clinical subgroups. The second subgroup was associated with tremor, ataxia, and focal thalamic lesions.…”

Dopamine D2 receptor binding is reduced in Wilson's disease: Correlation of neurological deficits with striatal123I-Iodobenzamide binding

“…Numerous reports exist where focal lesions in the thalamus, the brain stem, the dentate nuclei, the cerebral white matter and the basal ganglia of patients with WD are found using magnetic resonance imaging, and their pathogenesis is extensively discussed (Aisen et al, 1985;De Haan et al, 1987;Grimm et al, 1991;Lawler et al, 1983;Magalhaes et al, 1994;Metzer and Angtuaco, 1986;Prayer et al, 1990;Roh et al, 1994). Focal edema, nerve cell loss, demyelination, gliosis, intracellular deposition of haemosiderin and cavitation have been surmised to represent the morphological changes correlating to the magnetic resonance findings in WD.…”

Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease

“…The disease is diagnosed based on clinical features, the presence of KF ring along with biochemical markers including low serum level of ceruloplasmin, increased serum copper concentration and increased urinary copper excretion (Ala et al 2007). MRI features in Wilson's disease have been well described in a number of studies (Prayer et al 1990;Starosta-Rubinstein et al 1987;Magalhaes et al 1994;Sinha et al 2006;van Wassenaer et al 1996). The disease predominantly involves deep grey matter structures, corpus callosum and brainstem.…”