Different cortical excitability profiles in hereditary brain iron and copper accumulation(106 views visite) Dubbioso R, Ruggiero L, Esposito M, Tarantino P, De Angelis M, Aruta F, Pappata S, Ugga L, Piperno A, Iorio R, Santoro L, Iodice R, Manganelli F
Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy. rafdubbioso@gmail.com.
Institute of Biostructure and Bioimaging, National Council of Research, Via S. Pansini, 5 IT-80131, Napoli, Italy.
Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
References Riferimenti: Not available. Non disponibili.
Different cortical excitability profiles in hereditary brain iron and copper accumulation
BACKGROUND AND AIM: Neurodegeneration with brain iron accumulation (NBIA) and Wilson's disease (WD) is considered the prototype of neurodegenerative disorders characterised by the overloading of iron and copper in the central nervous system. Growing evidence has unveiled the involvement of these metals in brain cortical neurotransmission. Aim of this study was to assess cortical excitability profile due to copper and iron overload. METHODS: Three patients affected by NBIA, namely two patients with a recessive hereditary parkinsonism (PARK9) and one patient with aceruloplasminemia and 7 patients with neurological WD underwent transcranial magnetic stimulation (TMS) protocols to assess cortical excitability. Specifically, we evaluated the motor thresholds that reflect membrane excitability related to the voltage-gated sodium channels in the neurons of the motor system and the ease of activation of motor cortex via glutamatergic networks, and ad hoc TMS protocols to probe inhibitory-GABAergic (short interval intracortical inhibition, SICI; short-latency afferent inhibition, SAI; cortical silent period, CSP) and excitatory intracortical circuitry (intracortical facilitation, ICF). RESULTS: Patients with NBIA exhibited an abnormal prolongation of CSP respect to HC and WD patients. On the contrary, neurological WD displayed higher motor thresholds and reduced CSP and SICI. CONCLUSION: Hereditary conditions due to overload of copper and iron exhibited peculiar cortical excitability profiles that can help during differential diagnosis between these conditions. Moreover, such results can give us more clues about the role of metals in acquired neurodegenerative disorders, such as Parkinson disease, Alzheimer disease, and multiple sclerosis.
Different cortical excitability profiles in hereditary brain iron and copper accumulation
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