Paroxysmal movement disorders – practical update on diagnosis and management
| Autor: | Laura Silveira-Moriyama, Claudio M. de Gusmao |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
ADCY5
Movement disorders Deep brain stimulation medicine.diagnostic_test business.industry General Neuroscience medicine.medical_treatment Context (language use) Paroxysmal dyskinesia Bioinformatics 030227 psychiatry 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure PNKD Chorea Dopaminergic pathways Humans Medicine Pharmacology (medical) Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Genetic testing |
| Zdroj: | Expert Review of Neurotherapeutics. 19:807-822 |
| ISSN: | 1744-8360 1473-7175 |
| DOI: | 10.1080/14737175.2019.1648211 |
| Popis: | Introduction: Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell membrane and synaptic function. Despite the exponential increase in publications of genetically confirmed cases, management remains largely clinical based on non-systematic evidence. Areas covered: The authors provide a historical and clinical review of the main types of paroxysmal dyskinesias and episodic ataxias, with recommendations for diagnosis and management of patients suffering from these conditions. Expert opinion: After secondary paroxysmal dyskinesias, the most common paroxysmal movement disorders are likely to be PRRT2-associated paroxysmal kinesigenic dyskinesias, which respond well to small doses of carbamazepine, and episodic ataxia type 2, which often responds to acetazolamide. Familial paroxysmal non-kinesigenic dyskinesias are largely caused by mutations in PNKD and have poor response to therapy but improve with age. Exercise-induced dyskinesias are genetically heterogeneous, caused by disorders of glucose transport, mitochondrial function, dopaminergic pathways or neurodegenerative conditions amongst others. GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. Although a therapeutic trial is justified for classic cases and in limited resource settings, genetic testing may help direct initial or rescue therapy. Deep brain stimulation may be an option for severe cases. |
| Databáze: | OpenAIRE |
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