Two Cases of TMEM151A ‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients
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DOI: 10.1002/mdc3.13705
Abstract: Paroxysmal dyskinesia (PD) refers to a group of heterogeneous syndromes characterized by recurrent attacks of dystonia and/or chorea, without loss of consciousness. 1 PD are classi fi ed by trig-gers as paroxysmal kinesigenic dyskinesia (PKD),… read more here.
Keywords: tmem151a associated; dyskinesia; cases tmem151a; prrt2 negative ... See more keywords
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
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DOI: 10.1007/s00439-021-02271-6
Abstract: A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation… read more here.
Keywords: mutation associated; knockout mutation; associated juvenile; paroxysmal dyskinesia ... See more keywords
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
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DOI: 10.1038/s41431-020-0641-9
Abstract: Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated… read more here.
Keywords: biallelic pde2a; cause; pde2a variants; paroxysmal dyskinesia ... See more keywords
Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders
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DOI: 10.1080/14737175.2021.1840978
Abstract: ABSTRACT Introduction Paroxysmal movement disorders mostly comprise paroxysmal dyskinesia and episodic ataxia, and can be the consequence of a genetic disorder or symptomatic of an acquired disease. Areas covered In this review, the authors focused… read more here.
Keywords: paroxysmal movement; current challenges; treatment; paroxysmal dyskinesia ... See more keywords
Paroxysmal dyskinesia and electrodermal volatility: The role of mindfulness, self-compassion and psychophysiological interventions.
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DOI: 10.1080/23279095.2022.2060749
Abstract: To date, there are no behavioral or psychophysiological treatment studies on paroxysmal dyskinesia (PD). PD is a group of debilitating movement disorders that present with severe episodes of dystonia, chorea, and/or ballistic like movements. This… read more here.
Keywords: dyskinesia electrodermal; electrodermal volatility; volatility; paroxysmal dyskinesia ... See more keywords
Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia
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DOI: 10.1212/wnl.0000000000200060
Abstract: Background and Objectives The main culprit gene for paroxysmal kinesigenic dyskinesia, characterized by brief and recurrent attacks of involuntary movements, is PRRT2. The location of the primary dysfunction associated with paroxysmal dyskinesia remains a matter… read more here.
Keywords: prrt2 related; cerebellum; dysfunction; patients prrt2 ... See more keywords
Gluten serological testing in various dog breeds with paroxysmal dyskinesia
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DOI: 10.3389/fvets.2023.1119441
Abstract: Background Paroxysmal gluten-sensitive dyskinesia is a subtype of movement disorder classified as canine paroxysmal dyskinesia (cPD), which until now has only been described in Border Terriers (BT). Objectives Our aim was to report cPD with… read more here.
Keywords: cpd; serology; dyskinesia; paroxysmal dyskinesia ... See more keywords
Paroxysmal Dyskinesia in a case of Hypocalcemia with Hypothyroidism and Pseudohypoparathyroidism
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DOI: 10.4103/aian.aian_896_21
Abstract: Paroxysmal dyskinesias are rare movement disorders, which include paroxysmal choreoathetosis and paroxysmal dystonic choreoathetosis. They are mostly idiopathic in nature but have been reported secondary to certain metabolic disturbances. Among secondary causes of paroxysmal dyskinesias,… read more here.
Keywords: hypothyroidism pseudohypoparathyroidism; case hypocalcemia; hypocalcemia hypothyroidism; paroxysmal dyskinesia ... See more keywords