MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Contribution of the French registry in the understanding of Wilson disease

A. Poujois, N. Girardot, A.S. Brunet, A. Lachaux, F. Woimant (Paris, France)

Meeting: 2018 International Congress

Abstract Number: 467

Keywords: Ceruloplasmin, Copper, Tremors: Genetics

Session Information

Date: Saturday, October 6, 2018

Session Title: Rare Genetic and Metabolic Diseases

Session Time: 1:45pm-3:15pm

Location: Hall 3FG

Objective: To describe patients from the French Wilson disease (WD) registry.

Background: WD is a rare genetic disorder caused by loss of function of the ATP7B protein, resulting in toxic copper accumulation in the liver and the brain. Due to its rarity, patients’ data are difficult to collect. In France, the WD National reference Centre has a network dedicated to the disease, allowing to collect a maximum of data from these patients.

Methods: WD patients resident in France are included in the registry. Data were analyzed at diagnosis and at the last follow-up. Mean age and clinical forms at diagnosis and initial treatments prescribed were reported. At last follow-up, mean duration of the disease, evolution of clinical symptoms and modification of treatments were examined.

Results: 619 patients (49.1% males) were included in the registry, their diagnosis being made between 1959 and 2017. Mean age at diagnosis was 18.5 +/-11 years (min 1; max 64). 45.8% had a hepatic phenotype, 33.5% a neurological presentation and 20.7% were diagnosed on familial screening. In the hepatic group, the main initial clinical symptoms were jaundice (49%), ascites (12.7%) and edema (6.9%). Among neurological patients, main initial symptoms were tremor (52,6%), dysarthria (52%), writing difficulties (31%), dystonia (27%), gait disorder (27%), drooling (23%) and dysphagia (14%). Among the living patients (95.2%), mean time between diagnosis and last follow-up was 15 +/-13 years (min 1, max 58). 12.8% of the neurological patients had no more symptoms. Persistent symptoms were dysarthria (45.2%), dystonia (40.9 %), writing difficulties (23.4 %), tremor (21.8%), gait disorder (19.7%) and drooling (13.3%). Between diagnosis and last follow-up, 42% of patients had their treatment modified. D-Penicillamin prescription decreased from 79% to 37% whereas zinc salts and Trientine ones increased from 9% to 32% and 6% to 20% respectively. Bitherapy remained stable (3% vs 2%), 8.5% had a liver transplantation. Side effects that led to a change of treatment were respectively present in 33.7% under D-Penicillamin and 14.3% under zinc salts.

Conclusions: This cohort is the largest in Europe and corresponds to two thirds of the WD patients identified in France since 906 prevalent cases were reported in this country in a recent epidemiological study1. These data are fundamental for a better understanding of the disease and to improve patients’ care.

References: 1 Poujois A, Woimant F, Samson S, Chaine P, Girardot-Tinant N, Tuppin P. Characteristics and prevalence of Wilson’s disease: A 2013 observational population-based study in France. Clin Res Hepatol Gastroenterol. 2017 Jun 22;42(1):57-63.

To cite this abstract in AMA style:

A. Poujois, N. Girardot, A.S. Brunet, A. Lachaux, F. Woimant. Contribution of the French registry in the understanding of Wilson disease [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/contribution-of-the-french-registry-in-the-understanding-of-wilson-disease/. Accessed May 15, 2025.
  • Tweet
  • Email
  • Print

« Back to 2018 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/contribution-of-the-french-registry-in-the-understanding-of-wilson-disease/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • Yerba Mate (Ilex paraguaiensis) protects dopaminergic neurons degeneration and improve their maturation in culture
  • #26133 (not found)
  • Effect of marijuana on Essential Tremor: A case report
  • Increased Risks of Botulinum Toxin Injection in Patients with Hypermobility Ehlers Danlos Syndrome: A Case Series
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • Estimation of the 2020 Global Population of Parkinson’s Disease (PD)
  • Patients with Essential Tremor Live Longer than their Relatives
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley