Ion channel dysfunction in cerebellar ataxia

NEUROSCIENCE LETTERS

卷:688

Review

Bushart, David D.¹  Shakkottai, Vikram G.^1,2 

[1] Univ Michigan, Dept Mol & Integrat Physiol, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Dept Neurol, 4009 BSRB,109 Zina Pitcher Pl, Ann Arbor, MI 48109 USA

关键词: Spinocerebellar ataxia;    Ion channel;    Purkinje neuron;    Electrophysiology;    Channel activator;    Potassium channel;   

DOI  :  10.1016/j.neulet.2018.02.005

来源: Elsevier

【 摘 要 】

Cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in wheelchair confinement. Motor dysfunction in ataxia can be attributed to dysfunction and degeneration of neurons in the cerebellum and its associated pathways. Recent work has suggested the importance of cerebellar neuronal dysfunction resulting from mutations in specific ion-channels that regulate membrane excitability in the pathogenesis of cerebellar ataxia in humans. Importantly, even in ataxias not directly due to ion-channel mutations, transcriptional changes resulting in ion-channel dysfunction are tied to motor dysfunction and degeneration in models of disease. In this review, we describe the role that ion-channel dysfunction plays in a variety of cerebellar ataxias, and postulate that a potential therapeutic strategy that targets specific ion-channels exists for cerebellar ataxia.

【 授权许可】

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