Details

Autor(en) / Beteiligte

• Costantini, Antonio
• Giorgi, Rafaela
• D'Agostino, Sonia
• Pala, Maria Immacolata

Titel

High-dose thiamine improves the symptoms of Friedreich's ataxia

Ist Teil von

• BMJ case reports, 2013-05, Vol.2013, p.bcr2013009424

Ort / Verlag

England: BMJ Publishing Group LTD

Erscheinungsjahr

2013

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder characterised by progressive gait and limb ataxia, dysarthria, areflexia, loss of position sense and a progressive motor weakness of central origin. Some observations indicate that all symptoms of FRDA ataxia could be the manifestation of a thiamine deficiency because of enzymatic abnormalities. Two patients with FRDA were under rehabilitative treatment from February 2012 to February 2013. The scale for assessment and rating of ataxia was performed. The patient began an intramuscular therapy with 100 mg of thiamine every 3–5  days. Injection of high-dose thiamine was effective in reversing the motor failure. From this clinical observation, it is reasonable to infer that a thiamine deficiency due to enzymatic abnormalities could cause a selective neuronal damage in the centres that are typically affected by this disease.