Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. Some observations indicate that high doses of thiamine may lead to the partial regression of the symptoms. One patient was under rehabilitative treatment from June 2011 to July 2012. We assessed the level of fatigue using the Fatigue Severity Scale. We performed the Scale for Assessment and Rating of Ataxia and Robertson Profile for Dysarthria (Italian version). Thiamine and thiamine pyrophosphate levels in the blood were within the healthy reference range. We started a parenteral therapy with 100 mg intramuscular every 7 days. The therapy led to a partial regression of fatigue within a few days. After about 3 months, a discreet improvement of motor symptoms especially in speech was observed. The symptoms could derive from a focal thiamine deficiency that could determine a selective neuronal loss.
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PMID:Thiamine and spinocerebellar ataxia type 2. 2331 45

Thiamine is an important coenzyme, which is essential for metabolism and maintaining cellular osmotic gradient. Thiamine deficiency can cause focal lactic acidosis, alteration of the blood-brain barrier and the production of free radicals through cell death by necrosis and apoptosis. Wernicke encephalopathy (WE) is a clinical diagnosis. Cytotoxic and vasogenic oedema are the most typical neuroimaging findings of WE, presenting as bilateral symmetrical hyperintense signals on T2-weighted MR images. MRI is not necessary for the diagnosis of WE, but it can be helpful in ruling out alternative diagnosis. We present the case of an 61-year-old man with the history of class II obesity presenting with diplopia, dysarthria and vertigo, confirmed to be non-alcoholic WE. We aim to highlight the occurrence of WE in patients with large bowel resection though. Delay in diagnosis, particularly in obese individuals due to lack of suspicion, can lead to grim prognosis.
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PMID:Non-alcoholic Wernicke encephalopathy: great masquerader. 3059 27