Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia.

  title={Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia.},
  author={Anton K. Emelyanov and Tatyana Boukina and Andrey Yakimovskii and Tatyana Usenko and Alesya Drosdova and Andrey Zakharchuk and Pavel Andoskin and Michael Dubina and Alexander Schwarzman and Sofya N. Pchelina},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  volume={27 1},
A 24-year-old female teacher presented with fever, headache, and vomiting. Then an akinetic-rigid syndrome with tremor developed several days later. There was no family or personal history of movement disorders or other neurological or psychiatric diseases. Exposure to toxic substances or illicit drugs was denied. The cerebrospinal fluid (CSF) examination showed normal chlorine and glucose content, but there were 50 white blood cells per cubic millimetre and slightly elevated protein content… CONTINUE READING
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The syndrome of mitochondrial spinocerebellar ataxia and epilepsy caused by POLG mutations

  • C Tzoulis, LA Bindoff
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