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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Inherited (genetic) dystonia: Isolated dystonia syndromes.Dopa-responsive dystonia (DRD) syndromes.Combined dystonia syndromes.Paroxysmal dyskinesia syndromes.
Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders
Published in Expert Review of Neurotherapeutics, 2021
Cécile Delorme, Camille Giron, David Bendetowicz, Aurélie Méneret, Louise-Laure Mariani, Emmanuel Roze
Both the basal ganglia and the cerebellum are implicated in the pathogenesis of paroxysmal dyskinesia. Paroxysmal dyskinesia could be seen as a network disorder, in which either primary striatal dysfunction or aberrant cerebellar output conveyed to the striatum could be responsible for the phenotype. Striatal cAMP turnover is a critical molecular pathway involved in various hyperkinetic disorders and its alteration can result in PMD. The main treatable causes of PMD not to be missed include functional disorders, demyelinating (multiple sclerosis, neuromyelitis optica spectrum disorder), metabolic (dysthyroidism, hypoglycemia, hypocalcemia), immune-mediated (anti-LGI1 antibodies) and vascular disorders (limb shaking transient ischemic attack); and genetic disorders such as GLUT1-deficiency, PRRT2- or ADCY5-related paroxysmal dyskinesia, and CACNA1A-related episodic ataxia. Dietary strategies used for bypassing the GLUT1 transporter defect comprise classical ketogenic diet, novel variant ketogenic diets, and triheptanoin. The most reliable clues to the diagnosis of FPMD include the presence of a paroxysmal tremor, unresponsiveness during attacks, movement incongruency with known movement disorders and/or consistent with a particular ‘functional’ motor pattern, abnormal interictal examination with functional signs, distractibility of the movements or their induction/cessation by suggestion or placebo, and a waxing and waning pattern within a single episode.
Paroxysmal movement disorders – practical update on diagnosis and management
Published in Expert Review of Neurotherapeutics, 2019
Claudio M. De Gusmao, Laura Silveira-Moriyama
A sizeable proportion of paroxysmal dyskinesias may be functional in origin (also named ‘psychogenic’, despite the fact that a direct link to psychopathology is not always found). It is important to be cautious when diagnosing a disorder with intermittent symptoms as functional: clinicians should not use the episodic nature as an exclusive clue to a functional disorder. This ‘false red flag’ has led many patients with genetically proven paroxysmal movement disorders to be diagnosed with or suspected of having a functional condition. In a seminal retrospective cohort of 92 patients from Blakeley and Jankovic, 21 patients had a functional paroxysmal dyskinesia diagnosis based on the presence of false sensory examinations, psychiatric disorders, inconsistent neurological findings and other criteria for functional movement disorders [136]. Table 6 lists some semiological clues for the diagnosis of functional paroxysmal dyskinesias. The functional paroxysmal dyskinesia category may be particularly enriched for the non-kinesigenic subtype. In the previously cited paper published by Demirkiran and Jankovic, functional cases accounted for 35% of the PNKD cohort [9].
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures
Published in International Journal of Neuroscience, 2018
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
Paroxysmal dyskinesia consists of a group of inheritable episodic disorders characterized by recurrent attacks of involuntary movements and is classified by different triggers as either paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exercise-induced dystonia or paroxysmal hypnogenic dyskinesia (PHD). The symptoms of PKD occur during childhood or early adulthood with manifestations of dystonic postures, chorea or athetosis. Most PKD cases were inherited as an autosomal dominant pattern, however, there were some sporadic PKD cases [1]. Benign febrile infantile epilepsy (BFIE) is characterized by non-febrile convulsion in early months of life and normal psychomotor development in adulthood [2]. Infantile convulsions and choreoathetosis (ICCA) is also termed as PKD combined with infantile seizure (PKD/IC) to label patients who present with both BFIE and PKD [3]. During the last decade, these diseases have been associated with mutations of the proline-rich transmembrane protein 2 (PRRT2), a mutation that is also associated with seizures, migraines, intelligence disability and neurodevelopmental disorders [4–90].