Abstract
IntroductionTo determine whether brain volume was associated with functional and neurological impairments and with copper overload markers in patients with Wilson’s disease.MethodsIn 48 treatment-naïve patients, we assessed functional and neurological impairments with the Unified Wilson’s Disease Rating Scale, measured normalized brain volumes based on magnetic resonance images, and assessed concentration of non-ceruloplasmin-bound copper. We correlated brain volume measures with functional and neurological impairment scores and copper overload indices.ResultsFunctional and neurological impairments correlated with all brain volume measures, including the total brain volume and the volumes of white matter and gray matter (both peripheral gray matter and deep brain nuclei). Higher non-ceruloplasmin-bound copper concentrations were associated with greater functional and neurological impairments and lower brain volumes.ConclusionsOur findings provided the first in vivo evidence that the severity of brain atrophy is a correlate of functional and neurological impairments in patients with Wilson’s disease and that brain volume could serve as a marker of neurodegeneration induced by copper.
Highlights
To determine whether brain volume was associated with functional and neurological impairments and with copper overload markers in patients with Wilson’s disease
On brain magnetic resonance images (MRIs) of patients with Wilson’s disease (WD), bilateral T2-hyperintensities are typically observed in the deep brain structures [3,4,5], and widespread brain atrophy is commonly observed [5,6,7]
Median serum ceruloplasmin concentrations were below the normal range, whereas mean non-ceruloplasmin-bound copper (NCC) concentrations were above the upper limit of normal (15 μg/dL)
Summary
To determine whether brain volume was associated with functional and neurological impairments and with copper overload markers in patients with Wilson’s disease. Methods In 48 treatment-naïve patients, we assessed functional and neurological impairments with the Unified Wilson’s Disease Rating Scale, measured normalized brain volumes based on magnetic resonance images, and assessed concentration of nonceruloplasmin-bound copper. We correlated brain volume measures with functional and neurological impairment scores and copper overload indices. Wilson’s disease (WD) is an autosomal recessive disorder caused by mutations in the gene that encodes ATPase 7B (ATP7B), the membrane-bound copper transporter [1]. This enzyme, expressed in the liver, plays a central role in copper trafficking.
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