2020
DOI: 10.3390/ijms21103603
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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Abstract: 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 … Show more

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Cited by 47 publications
(57 citation statements)
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References 360 publications
(618 reference statements)
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“…Additionally, other than PRRT2 , several genes are related to PKD. Therefore, when patients with symptoms of PKD test negative for PRRT2 mutation, mutations in other genes including CAN8A , DEPDC5 , KCNA1 , KCNMA1 , PNKD , and SLC2A1 , should be considered [ 12 ].…”
Section: Discussionmentioning
confidence: 99%
“…Additionally, other than PRRT2 , several genes are related to PKD. Therefore, when patients with symptoms of PKD test negative for PRRT2 mutation, mutations in other genes including CAN8A , DEPDC5 , KCNA1 , KCNMA1 , PNKD , and SLC2A1 , should be considered [ 12 ].…”
Section: Discussionmentioning
confidence: 99%
“…h. Benign paroxysmal torticollis (BPT) [62] BPT is present as recurrent episodes of abnormal, painless head postures, alternating from side to side. Attacks may last from a few minutes to several days.…”
Section: G Sandifer Syndromementioning
confidence: 99%
“…i. Transient dystonia of infancy [62] Transient dystonia of infancy consists of paroxysmal episodes of abnormal upper limb posture, with occasional concomitant involvement of the trunk and a single lower limb [64]. The interictal examination and neuroimages are normal.…”
Section: G Sandifer Syndromementioning
confidence: 99%
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“…19) Like other paroxysmal movement disorders, some PNE are also associated with genetic mutations. 20) The CACNA1A gene encodes the α1A subunit of the voltage gated calcium channel. The mutation of this gene is associated with early infantile epileptic encephalopathy, episodic ataxia, migraine and spinocerebellar ataxia.…”
Section: Pathophysiologymentioning
confidence: 99%