Neuropsychiatric manifestations of Wilson’s disease
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LISNIC, Vitalie. Neuropsychiatric manifestations of Wilson’s disease. In: Conferința Naționala de Neuroștiințe Moderne „Boala Parkinson și Alte Tulburari de Mișcare”, Ed. 4, 6-8 aprilie 2023, Iași. Iași : Editura StudIS, 2023, Ediția 4, p. 91. ISSN ISSN 2821 – 5311 ISSN – L 2821 – 5311.
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Conferința Naționala de Neuroștiințe Moderne „Boala Parkinson și Alte Tulburari de Mișcare”
Ediția 4, 2023
Conferința "Conferința Naționala de Neuroștiințe Moderne „Boala Parkinson și Alte Tulburari de Mișcare”"
4, Iași, Romania, 6-8 aprilie 2023

Neuropsychiatric manifestations of Wilson’s disease


Pag. 91-91

Lisnic Vitalie12
 
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Diomid Gherman Institute of Neurology and Neurosurgery
 
 
Disponibil în IBN: 4 decembrie 2023


Rezumat

Wilson's disease (WD) is one of the rare diseases whose course could be modified by treatment. The prevalence of the disease is one case per 7,000 inhabitants. It is an autosomal recessive disorder, caused by the ATP7B mutation on chromosome l3.The phenotypic variability of WD is considerable. The age of onset is usually between l0 and 20 years. the clinical manifestations of WD are extraordinarily diverse. the main neurological manifestations are movement disorders, bulbar symptoms and other neurological manifestations that can occur in various combinations. tremor, dystonia and Parkinsonism form the core movement disorders.tremor is the first clinical manifestation in almost half of patients. the presentation is different from case to case: proximal, distal, at rest, with posture, and with action. The classic one is proximal, rubral so-called "wing beating". Dystonia can be focal, segmental or generalized. Typical manifestations of Parkinsonism develop in about 40% of patients, cerebellar dysfunction in a third of patients. Psychiatric manifestations are also seen in one-third of patients, ranging from mild changes to psychosis.The diagnosis of WD is supported by the detection of the Kayser-Fleischer ring. Rarely sunflower cataracts could be seen. Laboratory findings include increased free copper and decreased serum ceruloplasmin, as well as increased urinary copper output. According to the Leipzig diagnostic criteria, the mentioned changes are sufficient to establish the diagnosis of WD. Increase the diagnostic accuracy detecting the disease causing ATP7B mutation. Typical MRI findings are increased T2 signal at the mesencephalon and pons level, the so-called "giant panda" sign.The prognosis of WD is fatal if the disease is not treated. Lifelong treatment is required even in asymptomatic individuals. copper chelators (D-penicillamine, trientine) are first-line treatments. Zinc salts decrease copper absorption. Liver transplantation is considered in acute liver failure. New treatment options are trientine tetrahydrochloride, tetrathiomolybdate ammonium. the future belongs to liver-targeted gene therapy.

Cuvinte-cheie
Wilson's disease, tremor, dystonia, ceruloplasmin