Erschienen in:
01.06.2012 | Correspondence
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)
verfasst von:
Claudio Ruffmann, Michela Zini, Stefano Goldwurm, Manuela Bramerio, Sonia Spinello, Damiana Rusconi, Marcello Gambacorta, Fabrizio Tagliavini, Gianni Pezzoli, Giorgio Giaccone
Erschienen in:
Acta Neuropathologica
|
Ausgabe 6/2012
Einloggen, um Zugang zu erhalten
Excerpt
There are only two reports of neuropathological findings in heterozygotes for Parkin (
PARK2) mutation [
3,
5]. One was a normal individual bearing an exon 3 deletion, who at autopsy (at age 93) revealed the absence of α-synuclein pathology and no neuronal depletion in the substantia nigra (SN). The other case carried a single point mutation (C212Y, exon 6) and had been affected by neuropathologically confirmed PSP. …