Paroxysmal Kinesigenic Dyskinesia Symptoms Markedly Reduced with Parenteral Vitamins and Minerals: A Case Report

Bruton, Alisha; Fuller, Leslie

doi:10.7812/tpp/19.036

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…Repeated and brief episodes of involuntary movement caused by sudden voluntary movements are common manifestations of PKD (Ebrahimi‐Fakhari et al., 2015 ). PKD primarily arises from genetic variations, with its predominant inheritance pattern being autosomal dominant, often accompanied by incomplete penetrance (Bruton & Fuller, 2019 ). The first causative gene identified for PKD is the proline‐rich transmembrane protein 2 ( PRRT2 , OMIM:*614386, NC_000016.10, Ensembl: ENSG00000167371), which is responsible for the majority of PKD cases worldwide.…”

Section: Introductionmentioning

confidence: 99%

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus

Wen,

Huang,

Huang

et al. 2024

Molec Gen & Gen Med

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BackgroundParoxysmal kinesigenic dyskinesia (PKD) is the most prevalent kind type of paroxysmal Dyskinesia, characterized by recurrent and transient episodes of involuntary movements. Most PKD cases were attributed to the proline‐rich transmembrane protein 2 (PRRT2) gene, in which the c.649 region is a hotspot for known mutations. Even though some patients with PKD have been genetically diagnosed using whole‐exome sequencing (WES) and Sanger sequencing, there are still cases of missed diagnoses due to the limitations of sequencing technology and analytic methods on throughput.MethodsPatients meeting the diagnosis criteria of PKD with negative results of PRRT2‐Sanger sequencing and WES were included in this study. Mutation screening and targeted high‐throughput sequencing were performed to analyze and verify the sequencing results of the potential mutations.ResultsSix patients with PKD with high mutation ratios of c.649dupC were screened using our targeted high‐throughput sequencing from 26 PKD patients with negative results of PRRT2‐Sanger sequencing and WES (frequency = 23.1%), which compensated for the comparatively shallow sequencing depth and statistical flaws in this region. Compared with the local normal population and other patients with PKD, the mutation ratios of c.649dupC of these six patients with PKD were much higher and also had truncated protein structures and differentially altered mRNA expression.ConclusionBased on the above studies, we emphasize the routine targeted high‐throughput sequencing of the c.649 site in the PRRT2 gene in so‐called genetic‐testing‐negative patients with PKD, and manually calculate the deletion and duplication mutations depth and ratios to lower the rate of clinical misdiagnosis.

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Section: Introductionmentioning

confidence: 99%

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus

Wen,

Huang,

Huang

et al. 2024

Molec Gen & Gen Med

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Differential diagnosis of chorea (guidelines of the German Neurological Society)

Saft,

Burgunder,

Dose

et al. 2023

Neurol. Res. Pract.

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Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. Summary or definition of the topic The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. Recommendations Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27–35 CAG repeats) which may display expansions into the pathogenic range). Conclusions The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

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Paroxysmal Kinesigenic Dyskinesia Symptoms Markedly Reduced with Parenteral Vitamins and Minerals: A Case Report

Cited by 2 publications

References 19 publications

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus

Differential diagnosis of chorea (guidelines of the German Neurological Society)

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