Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging

Long, Zhiliang; Xu, Qiang; Miao, Huan-Huan; Yu, Yang; Ding, Meiping; Chen, Huafu; Liu, Zhirong; Liao, Wei

doi:10.1002/mds.26905

Cited by 41 publications

(41 citation statements)

References 51 publications

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“…Similarly, recent studies also substantiated evidence of pathological glutamatergic neurotransmission underlying Tourette's syndrome . Furthermore, there is some evidence suggesting changes in connectivity of certain circuits (cortico‐striato‐pallido‐thalamo‐cortical in tics; thalamomotor‐cortical circuits in PKD with or without PRRT2 mutations) as shared pathophysiological mechanism …”

Section: Discussionmentioning

confidence: 82%

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics

Balint

Wiethoff

Martino

et al. 2018

Movement Disord Clin Pract

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BackgroundParoxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.MethodsObservational study with a cohort of 14 PKD patients and genetic testing for PRRT2 mutations.ResultsIn a series of 14 PKD patients seen in our clinic at the National Hospital of Neurology, Queen Square, from 2012–2017, we noted tics in 11 patients (79%), which stand in stark contrast to the estimated lifetime prevalence of tics estimated to reach 1%.ConclusionsThe two reasons to point out this possible association are the clinical implications and the potential opportunity of a better understanding of shared pathophysiological mechanisms of neuronal hyperexcitability.

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Section: Discussionmentioning

confidence: 82%

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics

Balint

Wiethoff

Martino

et al. 2018

Movement Disord Clin Pract

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“…We then executed whole-brain fiber tracking in native diffusion space using the Fiber Assignment by continuous Tracking (FACT) algorithm, which was included in the Diffusion Toolkit ( Liao et al, 2011 ). The cut-off rules of the adopted algorithm were: (1) fractional anisotropy (FA) larger than 1.0, or (2) the angle between the current and the previous path segment exceeded 35 degree ( Long et al, 2017 ). Finally, we co-registered the regions of interest (ROIs) of three major subdivisions of the CC (genu, body and splenium) mentioned above to native diffusion space.…”

Section: Methodsmentioning

confidence: 99%

Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation

Liu

Niu

et al. 2018

NeuroImage: Clinical

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ObjectiveTo investigate the quantitative diffusion properties of the corpus callosum (CC) in a large group of patients with periventricular nodular heterotopia (PNH) related epilepsy and to further investigate the effect of Filamin A (FLNA) mutation on these properties.MethodsPatients with PNH (n = 34), subdivided into FLNA-mutated (n = 11) and FLNA-nonmutated patients (n = 23) and healthy controls (n = 34), underwent 3.0 T structural MRI and diffusion imaging scan (64 direction). Fractional anisotropy (FA) and mean diffusivity (MD) were measured in the three major subdivisions of the CC (genu, body and splenium). Correlations between DTI metric changes and clinical parameters were also evaluated. Furthermore, the effect of FLNA mutation on structural integrity of the corpus callosum was examined.ResultsPatients with PNH and epilepsy had significant reductions in FA for the genu and splenium of the CC, accompanied by increases in MD for the splenium, as compared to healthy controls. There were no correlations between clinical parameters of epilepsy and MD. The FA value in the splenium negatively correlated with epilepsy duration. Interestingly, FLNA-mutated patients showed significantly decreased FA for all three major subdivisions of the CC, and increased MD for the genu and splenium, as compared to HCs and FLNA-nonmutated patients.ConclusionsThese findings support the conclusion that patients with epilepsy secondary to PNH present widespread microstructural changes found in the corpus callosum that extend beyond the macroscopic MRI-visible lesions. This study also indicates that FLNA may affect white matter integrity in this disorder.

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“…Functional magnetic resonance imaging (MRI) studies have revealed an abnormal connectivity between the thalamus and the motor cortex in patients with PKD, and the functional abnormality is associated with the duration of the disease [37]. In patients with PRRT2 mutations, the thalamo−prefrontal hypoconnectivity has been observed, indicating that the PRRT2 mutations result in inefficient thalamo-prefrontal integration and dysfunction of motor inhibition [38]. Mechanistic studies have also revealed that the core pathogenesis of PKD is the disturbed cell excitability caused by PRRT2 mutation, which is associated with presynaptic dysfunction, abnormal neurotransmitter release and the lack of negative regulation of Na + channels [31,32].…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Cao¹,

Huang²,

Wang³

et al. 2021

Transl Neurodegener

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Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.

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Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging

Cited by 41 publications

References 51 publications

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics

Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

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