Exacerbation of idiopathic paroxysmal kinesigenic dyskinesia in remission state caused by secondary hypoparathyroidism with hypocalcemia after thyroidectomy: Evidence for ion channelopathy

Jin, Dongkwan; Yoon, Won Tae; Suh, Bum Chun; Moon, Heui-Soo; Chung, Pil-Wook; Kim, Yong Bum

doi:10.1016/j.braindev.2012.01.014

Cited by 8 publications

(7 citation statements)

References 26 publications

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“…On the other hand, if red flags which are not common in primary PKD patients are present, more careful assessment will be needed to differentiate primary PKD from other paroxysmal dyskinesias or secondary PKD. Brain CT/MRI is recommended for all PKD‐suspected patients, because PKD has several secondary etiologies, such as multiple sclerosis, trauma, metabolic derangements, and inadequate brain perfusion . Genetic screening is optional, because PKD is a relatively benign disease with spontaneous remission and effective medications to control attacks.…”

Section: Discussionmentioning

confidence: 99%

“…Brain CT/MRI is recommended for all PKD-suspected patients, because PKD has several secondary etiologies, such as multiple sclerosis, trauma, metabolic derangements, and inadequate brain perfusion. [29][30][31][32][33][34] Genetic screening is optional, because PKD is a relatively benign disease with spontaneous remission and effective medications to control attacks. For patients who undergo genetic screening, mutations of the following genes reported to be associated with PKD should be initially tested: PRRT2, PNKD, SLC2A1, SCN8A, KCNMA1, KCNA1, and DEPDC5.…”

Section: Genetic Features Of Paroxysmal Kinesigenic Dyskinesiamentioning

confidence: 99%

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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

et al. 2020

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Section: Discussionmentioning

confidence: 99%

Section: Genetic Features Of Paroxysmal Kinesigenic Dyskinesiamentioning

confidence: 99%

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

et al. 2020

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“…PKD was initially considered to be an ion channelopathy due to its clinical features and high sensitivity to small doses of sodium channel blockers [ 13 , 14 ]. However, proline-rich transmembrane protein 2 ( PRRT2 ) was the first disease-causing gene identified in 2011 by Chinese scholars, which likely explained the pathogenesis of familial PKD [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Elderly-Onset Paroxysmal Kinesigenic Dyskinesia: A Case Report

et al. 2022

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Paroxysmal kinesigenic dyskinesia (PKD) is characterized by transient and recurrent involuntary movements that are triggered by a sudden movement. Here, we report an elderly female patient with a 1-month history of paroxysmal rigidity of the right limb. As the symptoms were characterized as paroxysmal, transient, and repetitive, her condition was initially thought to be epilepsy. Subsequent examinations showed no abnormality in the continuous video-electroencephalogram (EEG) monitoring, magnetic resonance imaging (MRI), fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT), and genetic testing. The final diagnosis was identified as clinically diagnosed PKD, and the symptoms were well controlled after oxcarbazepine treatment. To our knowledge, this is the first report to show elderly-onset PKD. This case expands our understanding of the age of onset of PKD. However, it is necessary to differentiate PKD from reflex epilepsy and hysteria attacks. For patients with typical clinical manifestations, we should adhere to the standard diagnostic workflow for the efficient diagnosis of PKD, aiming at avoiding misdiagnosis and mistreatment.

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“…Secondary PKD has been described in the setting of hypocalcemia, as has exacerbation of symptoms in a patient with a history of idiopathic PKD in childhood. 84,90 This may relate to the role of disrupted ion channels in the pathophysiology of the disease, as has been seen in other paroxysmal movement disorders. 90…”

Section: Infectious/para-infectiousmentioning

confidence: 98%

Diagnostic Uncertainties: Chorea

Cincotta

Walker

2023

Semin Neurol

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Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of what additional genetic testing to pursue should be based on both clinical and epidemiological factors. The following review provides an overview of the many possible etiologies as well as a practical approach for a patient presenting with new-onset chorea.

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Exacerbation of idiopathic paroxysmal kinesigenic dyskinesia in remission state caused by secondary hypoparathyroidism with hypocalcemia after thyroidectomy: Evidence for ion channelopathy

Cited by 8 publications

References 26 publications

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Elderly-Onset Paroxysmal Kinesigenic Dyskinesia: A Case Report

Diagnostic Uncertainties: Chorea

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