WD News Briefs

Wilson Disease

Diagnosis and Prognosis of Wilson Disease Has Improved in Poland

The diagnosis and prognosis of Wilson disease have improved in the last 70 years, according to a recently published study. This is the largest cohort of patients with the disease reported in the country with the longest follow-up period, noted Iwona Kurkowska-Jastrzębska, MD, PhD, from the Second Department of Neurology, Institute of Psychiatry and Neurology…

gene research

Novel Pathogenic Gene Variants May Help Better Diagnose Wilson Disease

Researchers from China identified 14 new suspected pathogenic variants in the ATP7B gene in 12 patients with clinically suspected Wilson disease, according to a study. This finding may increase the diagnostic accuracy of the disease and ensure that patients with the clinically suspected disease receive the right treatment in a timely manner, the researcher noted.…

ITP care team

Magnetic Evoked Field Analysis May Detect Abnormal Pathways in WD

Magnetic evoked field (MEF) analysis can detect subclinical abnormalities in sensory pathways, with the potential of explaining some of the neurological deficits associated with Wilson disease, according to a recently published study in the journal Neurology India. Although Wilson disease can produce a vast array of neurological manifestations ranging from parkinsonism to psychosis, sensory symptoms are…

ITP care team

Study Shows Heterogeneity of Diagnostic Tools and Treatment in Wilson Disease

A large, national multicenter registry of Spanish patients with Wilson disease (WD) showed significant heterogeneity in diagnostic methods and treatment tools utilized between centers, according to an article published in Gastroenterología y Hepatología. Noninvasive diagnostic laboratory parameters yielded discordant results in 39.8% of the cases followed in the study. Ceruloplasmin levels were decreased in 91.8%…

Wilson Disease

Diagnosis and Management of Wilson Disease Differ Between Centers in Spain

There is significant heterogeneity in the diagnosis and management of Wilson disease across reference centers in Spain, whether large or small, according to a new multicenter cohort study published in Gastroenterología y Hepatología. The authors of the study suggest that the incorporation of genetic testing could improve the diagnosis of the disease. To explore whether…

botox

Botulinum Toxin May Be Used to Treat Dystonia in Wilson Disease

Botulinum toxin type A (BoNT-A) appears to effectively alleviate dystonia in patients with Wilson disease (WD), according to a recently published study in Toxicon.  Dystonia is 1 of the most common neurological symptoms associated with WD. The sustained, intermittent muscle contractions can seriously impact the quality of life of patients, even leading to full immobilization in…

scan image

Diffusion Tensor Imaging Detects Early Changes in Wilson Disease

Diffusion tensor imaging (DTI) appears to be superior to magnetic resonance imaging (MRI) in the detection of early structural brain abnormalities in patients with Wilson disease, according to a systematic review recently published in Brain Imaging and Behavior.  The increased copper levels associated with Wilson disease can cause structural brain damage, particularly in the basal ganglia,…

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