Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding?

Kwon, Yong; Jung, Jun‐Sub; Choi, Jeong Yoon; Kwon, Do Young

doi:10.1016/j.jns.2015.06.067

Cited by 10 publications

(13 citation statements)

References 6 publications

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“…Of note, PxDs can be the feature of several treatable disorders, including autoimmune encephalitis [72,344,345], acute disseminated encephalomyelitis [346], antiphospholipid syndrome [347], Hashimoto encephalopathy [43], thyrotoxicosis and hyperthyroidism [44], hypo-and hyperglycemia [348,349], hypocalcemia [350][351][352], or vasculopathies [353].…”

Section: Metabolic Disorders With Eamentioning

confidence: 99%

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Garone

Capuano

Travaglini

et al. 2020

IJMS

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Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.

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Section: Metabolic Disorders With Eamentioning

confidence: 99%

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Garone

Capuano

Travaglini

et al. 2020

IJMS

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“…Paroxysmal dyskinesias have been reported in some cases, adults or children, with PHP,[47] but in no case does the clinical picture seem to be characterized mainly by tic-like symptoms as in our patient. In the diagnostic work-up of our case, the key moment was the unexpected discovery of cerebral calcifications through the CT scan performed due to the abnormalities of the electroencephalogram, carried out following a paroxysmal event resembling an epileptic seizure.…”

Section: Discussionmentioning

confidence: 46%

“…In our case, we hypothesize a correlation between serum calcium levels and tic-like dyskinesias, similarly to what other authors have done for paroxysmal dyskinesias. [7] But also, other clinical aspects detected in our case deserve to be discussed. The general fatigue of our patient looks similar to what has been reported for the boy with PHP type 1b (unlike our case, due to a microdeletion involving exons 4–6 of the GNAS neighboring Syntaxin 16 gene) described by Nagasaki et al .…”

Section: Discussionmentioning

confidence: 77%

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

et al. 2016

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Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. We suggest that the diagnostic hypothesis of PHP might be considered when dealing with a child with tic-like dyskinesias, especially if associated with a series of heterogeneous not well-defined neurological and behavioral features. In these cases, treatment with calcitriol and calcium has to be started as soon as possible to achieve a prompt and persistent clinical improvement.

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“…The lesions of MS related to PKD involve the thalamus, the lenticular nucleus, the globus pallidus and the internal capsule [43], and these demyelinating lesions may result in increased axon sensitivity that causes symptoms [43]. Calcification of the basal ganglia, including the idiopathic basal ganglial calcification and the basal ganglial calcification secondary to hypoparathyroidism or pseudo-parathyroidism, may also cause the secondary PKD [47][48][49][50][51].…”

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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Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding?

Cited by 10 publications

References 6 publications

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

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

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