Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the α-synuclein gene (SNCA)

@article{Tijero2010CardiacSD,
  title={Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the α-synuclein gene (SNCA)},
  author={Beatriz Tijero and Juan Carlos G{\'o}mez-Esteban and Ver{\'o}nica Llorens and Ed Lezcano and Mar{\'i}a Carmen Gonzalez-Fern{\'a}ndez and Marian Mart{\'i}nez de Pancorbo and Javier Ru{\'i}z-Mart{\'i}nez and J. C. Cembellin and Juan Jos{\'e} Zarranz},
  journal={Clinical Autonomic Research},
  year={2010},
  volume={20},
  pages={267-269}
}
Here we report the case of an asymptomatic carrier of the E46K substitution in α-synuclein gene where we have documented that cardiac sympathetic denervation precedes nigrostriatal dopaminergic loss. She has been followed up regularly with standard neurological examination, UPDRS, neuropsychological formal testing, parkinson disease sleep scale-PDSS, Epworth scale, Hamilton-D scale, SCOPA Aut, orthostatic hypotension test, brief smell identification test, polysomnography, cerebral 123-I-FP-CIT… CONTINUE READING

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