'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178

Background and purpose A novel TYPE of prion disease associated mainly with autonomic‐sensory polyneuropathy was reported by us previously. Methods Here the autopsy pathology for patient 1 (the sister) and the clinical characteristics of her younger brother (patient 2) are newly reported. Polymerase...

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Veröffentlicht in:European journal of neurology 2016-01, Vol.23 (1), p.196-200
Hauptverfasser: Matsuzono, K., Honda, H., Sato, K., Morihara, R., Deguchi, K., Hishikawa, N., Yamashita, T., Kono, S., Ohta, Y., Iwaki, T., Abe, K.
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