Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-90. PubMed.

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- Jacob Mack
  bio-chemistry-psychology/neuroscience graduate.
- Posted: 13 Feb 2006
- News: Ataxia—Rare Spectrin Mutations and a Rarer Pedigree
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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