Different cortical excitability profiles in hereditary brain iron and copper accumulation (2284 views)
Neurol Sci (ISSN: 1590-1874linking, 1590-3478), 2020 Mar; 41(3): 679-685.
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Paper type: Journal Article,
Impact factor: 1.315, 5-year impact factor: 1.273
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Keywords: Gaba , Metals , Nbia , Neurodegeneration , Tms , Wilson, S Disease, Adult , Ceruloplasmin Deficiency , Cortical Excitability Physiology , Female , Hepatolenticular Degeneration Physiopathology , Humans , Iron Metabolism Disorders Physiopathology , Middle Aged , Neuroaxonal Dystrophies Physiopathology , Neurodegenerative Diseases Physiopathology , Parkinsonian Disorders Physiopathology , Transcranial Magnetic Stimulation , Young Adult , Wilson’s Disease,
Affiliations:
*** IBB - CNR ***
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:
Not available.
Neurol Sci (ISSN: 1590-1874linking, 1590-3478), 2020 Mar; 41(3): 679-685.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 1.315, 5-year impact factor: 1.273
Url: Not available.
Keywords: Gaba , Metals , Nbia , Neurodegeneration , Tms , Wilson, S Disease, Adult , Ceruloplasmin Deficiency , Cortical Excitability Physiology , Female , Hepatolenticular Degeneration Physiopathology , Humans , Iron Metabolism Disorders Physiopathology , Middle Aged , Neuroaxonal Dystrophies Physiopathology , Neurodegenerative Diseases Physiopathology , Parkinsonian Disorders Physiopathology , Transcranial Magnetic Stimulation , Young Adult , Wilson’s Disease,
Affiliations:
*** IBB - CNR ***
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:
Not available.
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.
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
Different cortical excitability profiles in hereditary brain iron and copper accumulation
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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Impact Factor: 5.925
View Export to BibTeX Export to EndNote
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* Neuroprotective features of carnosine in oxidative driven diseases (1899 views)
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View Export to BibTeX Export to EndNote
La Mendola D, Pietropaolo A, Pappalardo G, Zannoni C, Rizzarelli E
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Impact Factor: 4.971
View Export to BibTeX Export to EndNote
La Mendola D, Pietropaolo A, Pappalardo G, Zannoni C, Rizzarelli E
* Prion proteins leading to neurodegeneration (1537 views)
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Impact Factor: 4.132
View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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* The cell cycle molecules behind neurodegeneration in Alzheimer's disease: Perspectives for drug development (1876 views)
Curr Med Chem (ISSN: 0929-8673, 1875-533x, 1875-533xelectronic), 2008; 15(24): 2420-2432.
Impact Factor: 4.823
View Export to BibTeX Export to EndNote
25 Records (24 excluding Abstracts).
Total impact factor: 114.849 (109.878 excluding Abstracts).
Total 5 year impact factor: 83.465 (79.467 excluding Abstracts).
Total impact factor: 114.849 (109.878 excluding Abstracts).
Total 5 year impact factor: 83.465 (79.467 excluding Abstracts).
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