Abstract
Episodic ataxias comprise a group of inherited disorders, which have a common hallmark—transient attacks of ataxia. The genetic background is heterogeneous and the causative genes are not always identified. Furthermore, the clinical presentation, including intraictal and interictal symptoms, as well as the retention and progression of neurological deficits, is heterogeneous. Spells of ataxia can be accompanied by other symptoms—mostly from the central nervous system. However, in some of episodic ataxias involvement of peripheral nervous system is a part of typical clinical picture. This review intends to provide an insight into involvement of peripheral nervous system in episodic ataxias.
Highlights
Episodic ataxias (EAs, OMIM: phenotypic series PS160120, hereditary episodic ataxiaORPHA:211062) are a group of inherited disorders with a common denominator in the form of transient attacks of incoordination
This review aims to present an overview of peripheral nervous system (PNS) involvement in EAs and the underlying pathophysiology
Both voluntarily activated SFEMG, which is generally used in adults, and axonal stimulation revealed both jitters and blocking in Episodic ataxia 2 (EA2) patients, which improved with higher frequencies of stimulation, suggesting a presynaptic defect of neuromuscular transmission
Summary
Episodic ataxias (EAs, OMIM: phenotypic series PS160120, hereditary episodic ataxia. ORPHA:211062) are a group of inherited disorders with a common denominator in the form of transient attacks of incoordination. The resolution of the neurological deficits is incomplete, and these deficits increase with the duration of the disease This heterogeneity can be observed even within families with the same mutation and factors (including genetic and environmental) that modify the clinical presentation remain largely unknown. The most common types are EA1 and EA2 Their causative genes encode the alpha subunits of potassium Kv 1.1 and calcium Cav 2.1 voltage-gated channel, respectively. These two EAs remain relatively best characterized on the molecular level when compared to the rest of EAs. These two EAs remain relatively best characterized on the molecular level when compared to the rest of EAs Even in their case, the genotype–phenotype correlation is unknown. Myasthenic weakness can be generalized and fluctuating; SFEMG: jitter and blocking
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