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Patients should seek urgent same-day assessment if they develop any new neurological symptoms, as subacute combined degeneration of the spinal cord a serious but preventable complication of prolonged B12 deficiency requires immediate treatment

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Their impact in the disease initiation and progression needs further investigation in vivo , but in general, these modifications in mutant ATXN3 were shown to modulate its stability, subcellular localization, enzymatic activity, neuroprotective function, self-assembly, its interaction affinity with molecular partners, and/or pathogenicity

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