. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-90. PubMed.


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  1. I highly reccomend these primary papers. Finally some truly relevant research in a more direct and powerful manner. Gluatamate receptor transpositioning and lack of proper activity in cerebellar structures is crucial to proper motor functions and it turns out input of sensory data. Spectrin proteins are key structural--functional determinates at the synapse and elsewhere. Any compromise of dynein--dynactin complex can damage, inhibit and destroy functional axons and therefore proper nerve cell communication.

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  1. Ataxia—Rare Spectrin Mutations and a Rarer Pedigree