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01-03-2020 | Wilson's Disease | Original Article

Different cortical excitability profiles in hereditary brain iron and copper accumulation

Authors: Raffaele Dubbioso, Lucia Ruggiero, Marcello Esposito, Paola Tarantino, Marcello De Angelis, Francesco Aruta, Sabina Pappatà, Lorenzo Ugga, Alberto Piperno, Raffaele Iorio, Lucio Santoro, Rosa Iodice, Fiore Manganelli

Published in: Neurological Sciences | Issue 3/2020

Abstract

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.

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Title: Different cortical excitability profiles in hereditary brain iron and copper accumulation
Authors: Raffaele Dubbioso
Lucia Ruggiero
Marcello Esposito
Paola Tarantino
Marcello De Angelis
Francesco Aruta
Sabina Pappatà
Lorenzo Ugga
Alberto Piperno
Raffaele Iorio
Lucio Santoro
Rosa Iodice
Fiore Manganelli
Publication date: 01-03-2020
Publisher: Springer International Publishing
Keywords: Wilson's Disease
Motor Evoked Potential
Transcranial Magnetic Stimulation
Wilson's Disease
Motor Evoked Potential
Transcranial Magnetic Stimulation
Published in: Neurological Sciences / Issue 3/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-04147-0

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Different cortical excitability profiles in hereditary brain iron and copper accumulation

Abstract

Background and aim

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background and aim

Methods

Results

Conclusion

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