Neurological features and outcomes of Wilson's disease: a single-center experience.
Neurologic
Outcome
Prognosis
Wilson’s disease
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
11
07
2020
accepted:
17
12
2020
pubmed:
22
1
2021
medline:
7
9
2021
entrez:
21
1
2021
Statut:
ppublish
Résumé
Wilson's disease (WD) is an autosomal recessive genetic disorder of copper metabolism, and WD patients can present with neurologic symptoms. We aimed to report the general characteristics and prognosis of a Turkish series of WD patients with neurological manifestations. A total of 12,352 patients were screened from the patient database, and 53 WD patients were included. Patients were classified based on the predominant neurological syndrome type including tremor, dystonia, parkinsonism, or discrete neurological signs and were classified as having "good outcome," "stable," and "poor outcome" according to their treatment response. There were 32 male and 21 female patients, aged 20-66 years. The mean follow-up was 11.3 ± 4.56 years. Sixty-two percent of patients presented predominantly with neurological symptoms. Neurological WD diagnosis was established after a mean time delay of 2.3 years from the WD diagnosis. The most common neurological manifestation was dystonia, followed by tremor and parkinsonism. Fifteen patients had a family history of WD. Consanguinity was present in 20 patients. Patients were treated with D-penicillamine, trientine, zinc salts, or their combinations. Besides the main treatments, 41 patients were on symptomatic treatment for neurologic symptoms. Thirty-six patients had a "good outcome," five patients were stable, and six patients had "poor outcome." Post-chelation neurological worsening was observed in 11 patients. WD should be considered in differential diagnosis in any patient with unexplained neurologic symptoms. Early diagnosis is important, and appropriate treatment should be promptly initiated to prevent progressive and irreversible damage, with good prognosis and stable disease in the majority of the patients with treatment compliance.
Identifiants
pubmed: 33474589
doi: 10.1007/s10072-020-05013-0
pii: 10.1007/s10072-020-05013-0
doi:
Substances chimiques
Copper
789U1901C5
Penicillamine
GNN1DV99GX
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3829-3834Informations de copyright
© 2021. Fondazione Società Italiana di Neurologia.
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