Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis

被引：7

作者：

Dubbioso, Raffaele ^{[1
]}

Esposito, Marcello ^{[1
]}

Peluso, Silvio ^{[1
]}

Iodice, Rosa ^{[1
]}

De Michele, Giuseppe ^{[1
]}

Santoro, Lucio ^{[1
]}

Manganelli, Fiore ^{[1
]}

机构：

[1] Federico II Univ Naples, Dept Neurosci Reprod Sci & Odontostomatol, Via S Pansini 5, IT-80131 Naples, Italy

来源：

NEUROSCIENCE LETTERS | 2017年 / 654卷

关键词：

Chorea-acanthocytosis; Cortical excitability; Transcranial magnetic stimulation; Inhibitory circuits; Gamma-Aminobutyric acid; LATENCY AFFERENT INHIBITION; CORTICAL EXCITABILITY; GABA(A) RECEPTOR; DISEASE; LORAZEPAM; MECHANISM; INSIGHTS; HUMANS;

D O I：

10.1016/j.neulet.2017.06.032

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Chorea-acanthocytosis (Ch-Ac) is an autosomal recessive neurodegenerative disorder characterized by adult-onset chorea, acanthocytes in the peripheral blood, and Huntington's disease-like neuropsychiatric symptoms. Animal studies have shown mutation-related dysregulated cortical gamma-aminobutyric acid (GABA)ergic inhibitory networks in its pathophysiology. Herein we found that in patients with Ch-Ac there is a striking alteration of intracortical inhibitory circuits detected by using paired pulse transcranial magnetic stimulation protocols. Our findings show in vivo the functional disruption of GABA(A)-mediated networks in humans with Ch-Ac supporting the existing data in mice models with this condition. (C) 2017 Elsevier B.V. All rights reserved.

引用

收藏

页码：107 / 110

页数：4

相关论文

共 24 条

[1] Nicotinic receptor activation in human cerebral cortical interneurons: a mechanism for inhibition and disinhibition of neuronal networks [J].

Alkondon, M ;

Pereira, EFR ;

Eisenberg, HM ;

Albuquerque, EX .

JOURNAL OF NEUROSCIENCE, 2000, 20 (01) :66-75

[2]

Badawy RAB, 2012, FUNCT NEUROL, V27, P131

[3] Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures [J].

Connolly, Barbara S. ;

Hazrati, Lili-Naz ;

Lang, Anthony E. .

ACTA NEUROPATHOLOGICA, 2014, 127 (04) :613-615

[4] In vivo cholinergic circuit evaluation in frontotemporal and Alzheimer dementias [J].

Di Lazzaro, V ;

Pilato, F ;

Dileone, M ;

Saturno, E ;

Oliviero, A ;

Marra, C ;

Daniele, A ;

Ranieri, F ;

Gainotti, G ;

Tonali, PA .

NEUROLOGY, 2006, 66 (07) :1111-1113

[5] Dissociated effects of diazepam and lorazepam on short-latency afferent inhibition [J].

Di Lazzaro, V ;

Pilato, F ;

Dileone, M ;

Tonali, PA ;

Ziemann, U .

JOURNAL OF PHYSIOLOGY-LONDON, 2005, 569 (01) :315-323

[6] Effects of lorazepam on short latency afferent inhibition and short latency intracortical inhibition in humans [J].

Di Lazzaro, V ;

Oliviero, A ;

Saturno, E ;

Dileone, M ;

Pilato, F ;

Nardone, R ;

Ranieri, F ;

Musumeci, G ;

Fiorilla, T ;

Tonali, P .

JOURNAL OF PHYSIOLOGY-LONDON, 2005, 564 (02) :661-668

[7] Subclinical neurological involvement does not develop if Wilson's disease is treated early [J].

Dubbioso, Raffaele ;

Ranucci, Giusy ;

Esposito, Marcello ;

Di Dato, Fabiola ;

Topa, Antonietta ;

Quarantelli, Mario ;

Matarazzo, Margherita ;

Santoro, Lucio ;

Manganelli, Fiore ;

Iorio, Raffaele .

PARKINSONISM & RELATED DISORDERS, 2016, 24 :15-19

[8] The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity [J].

Dubbioso, Raffaele ;

Pellegrino, Giovanni ;

Antenora, Antonella ;

De Michele, Giuseppe ;

Filla, Alessandro ;

Santoro, Lucio ;

Manganelli, Fiore .

BRAIN STIMULATION, 2015, 8 (06) :1144-1150

[9] Seeking a mechanism of action for the novel anticonvulsant lacosamide [J].

Errington, Adam C. ;

Coyne, Leanne ;

Stoehr, Thomas ;

Selve, Norma ;

Lees, George .

NEUROPHARMACOLOGY, 2006, 50 (08) :1016-1029

[10] Intracortical hyperexcitability in humans with a GABAA receptor mutation [J].

Fedi, Marco ;

Berkovic, Samuel F. ;

Macdonell, Richard A. L. ;

Curatolo, Josie M. ;

Marini, Carla ;

Reutens, David C. .

CEREBRAL CORTEX, 2008, 18 (03) :664-669