کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1920393 1535825 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Subclinical neurological involvement does not develop if Wilson's disease is treated early
ترجمه فارسی عنوان
اگر بیماری ویلسون زود درمان شود، درگیری عصب شناختی تحت بالینی پیشرفت نمی کند
کلمات کلیدی
بیماری ویلسون؛ درمان؛ تکنیک های تشخیصی مغز و اعصاب؛ بیماری OutcomeWilson ، WD؛ سیستم عصبی مرکزی، دستگاه عصبی مرکزی؛ مقیاس ارزیابی جهانی، تصویربرداری رزونانس مغناطیسی،
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
چکیده انگلیسی


• We studied 38 patients with Wilson’s disease and no overt neurological clinical signs.
• All patients received an early diagnosis and treatment.
• Neurophysiological, neuroradiological and neuropsychological studies were performed.
• All neurological investigations did not show abnormalities.
• These patients did not present neurological impairment even on a subclinical level at least 10 years after treatment onset.

Background & aimsWilson's disease (WD) is a genetic disorder of copper metabolism causing dysfunctions of various organs, mostly the liver and brain. If untreated, WD is fatal, but early treatment results in a good prognosis, although the long-term neurological outcome has not yet been clarified. To address this issue, we evaluated the neurological status of early-treated WD patients without overt nervous system impairment using neurophysiological, neuropsychological and neuroimaging procedures at least 10 years after treatment onset.MethodsThirty-eight WD patients (18 females, aged 24.47 ± 7.50 years), who received an early diagnosis (in presymptomatic or mild/moderate liver disease stages without neurological involvement) and prompt treatment, were clinically evaluated with the Global Assessment Scale. Presentation was hepatic in 36 subjects (95%), while 2 patients (5%) were presymptomatic. A neurophysiological study was performed to explore the central motor conduction time of the upper and lower limbs, and motor cortex excitability using single pulses and paired-pulse transcranial magnetic stimulation. Neuroimages were obtained with brain magnetic resonance scans. Cognitive abilities, and psychiatric and behavioral disturbances were evaluated with neuropsychological tests.ResultsPatients were undergoing treatment with penicillamine (7 patients) or zinc salts (31 patients) with good adherence. They did not present any neurological signs at clinical evaluation or at specific scale of impairment, the mean Global Assessment Scale score was 0.3 ± 0.7. Magnetic resonance imaging, transcranial magnetic stimulation studies and neuropsychological/neuropsychiatric assessment ruled out subclinical involvement.ConclusionsThis study suggests that early diagnosis and treatment of WD may prevent the onset of neurologic damage, even at subclinical level.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Parkinsonism & Related Disorders - Volume 24, March 2016, Pages 15–19
نویسندگان
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