Raffaele Dubbioso1, Giusy Ranucci2, Marcello Esposito1, Fabiola Di Dato2, Antonietta Topa1, Mario Quarantelli3, Margherita Matarazzo4, Lucio Santoro1, Fiore Manganelli1, Raffaele Iorio5. 1. Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Italy. 2. Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy. 3. Institute of Biostructure and Bioimaging, National Research Council (CNR), Naples, Italy. 4. Department of Translational Medical Sciences, Section of Internal Medicine, University of Naples Federico II, Italy. 5. Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Italy. Electronic address: riorio@unina.it.
Abstract
BACKGROUND & AIMS: Wilson'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. METHODS: Thirty-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. RESULTS: Patients 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. CONCLUSIONS: This study suggests that early diagnosis and treatment of WD may prevent the onset of neurologic damage, even at subclinical level.
BACKGROUND & AIMS:Wilson'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 WDpatients without overt nervous system impairment using neurophysiological, neuropsychological and neuroimaging procedures at least 10 years after treatment onset. METHODS: Thirty-eight WDpatients (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. RESULTS:Patients 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. CONCLUSIONS: This study suggests that early diagnosis and treatment of WD may prevent the onset of neurologic damage, even at subclinical level.
Authors: Marcello Esposito; Raffaele Dubbioso; Stefano Tozza; Rosa Iodice; Marco Aiello; Emanuele Nicolai; Carlo Cavaliere; Marco Salvatore; Lucio Santoro; Fiore Manganelli Journal: Heliyon Date: 2019-11-14
Authors: Eun Ju Choe; Jong Won Choi; Minjin Kang; Yong Kang Lee; Han Ho Jeon; Byung Kyu Park; Sun Young Won; Yong Suk Cho; Jeong Hun Seo; Chun Kyon Lee; Jae Bock Chung Journal: Sci Rep Date: 2020-08-20 Impact factor: 4.379
Authors: Giuseppe Lanza; Francesco Fisicaro; Raffaele Dubbioso; Federico Ranieri; Andrei V Chistyakov; Mariagiovanna Cantone; Manuela Pennisi; Alfio Antonio Grasso; Rita Bella; Vincenzo Di Lazzaro Journal: Front Aging Neurosci Date: 2022-09-26 Impact factor: 5.702