Special Issue "Molecular Mechanisms, Physiopathology and Therapeutic Management of Episodic Ataxia"
Deadline for manuscript submissions: closed (31 October 2020).
Interests: Ion channels physiology; Ion channels pharmacology; Ion channel diseases: channelopathies; Autism; Intellectual disability; Epilepsy; Movement disorders, Ataxia; Neurophysiology; Electrophysiology
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Ataxias are rare heterogeneous neurological disorders that affect balance, coordination, and speech. Ataxia syndromes include hereditary forms such as episodic, spinocerebellar, Friedreich’s, X-linked, and mitochondrial ataxia as well as sporadic conditions. The clinical spectrum of these syndromes is wide, and phenotypic variability is recurrent between individuals suffering from the same ataxia subtype. Ataxia can also be a symptom of other diseases, such as multiple sclerosis and cerebral palsy. Episodic ataxias (EAs) are a group of dominantly inherited disorders characterized by transient recurrent incoordination and imbalance, often triggered by physical and emotional stress and mostly with early onset. The number of EAs is expanding and, to date, eight subtypes have been defined, principally on a genetic basis. EA1 and EA2, the most common and better characterized forms, are considered neurologic channelopathies. EA1 is caused by heterozygous mutations in KCNA1, which encodes the voltage-gated potassium channel Kv1.1, predominantly expressed in the cerebellum. EA2 is caused by heterozygous mutations in CACNA1A, which encodes the voltage-gated calcium channel Cav2.1, or P/Q‐type that is abundantly expressed in the cerebellum and the neuromuscular junction. EA2 is allelic with two other neurologic conditions: familial hemiplegic migraine type 1 and spinocerebellar ataxia type 6. The functional characterization of mutant channels in heterologous systems and studies from animal models has helped to shed light on the molecular and cellular mechanisms underlying both EA1 and EA2. EA6 is caused by heterozygous mutations in SLC1A3, which encodes for a subunit of the glial glutamate transporter, EAAT1. The other EA subtypes were defined in single families and are awaiting gene identification and confirmation. Antiepileptic drugs, acetazolamide and 4-aminopyridine are among the symptomatic treatments available for EA syndromes.
This Special Issue “Molecular Mechanisms, Physiopathology and Therapeutic Management of Episodic Ataxia” will comprise a selection of research papers and reviews covering various aspects of EA syndromes, including clinical and genetic diagnosis, genotype–phenotype correlation, disease mechanisms, animal models, and therapeutic management. Manuscripts focusing on other types of rare ataxias will also be considered. We hope that this Special Issue will be a meeting place for scientists working on ataxia, as well as an opportunity to establish collaborations.
This Special Issue is jointly organized between IJMS and Biomedicines journals. According to the Aims and Scope of these journals, articles showing basic studies in biochemistry, molecular biology, and molecular medicine can be submitted to IJMS, while articles presenting more clinical content can be submitted to Biomedicines.
Dr. Paola Imbrici
Manuscript Submission Information
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- episodic ataxia
- ion channels and transporters