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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Brain : a journal of neurology - 1 May 2014

Wong Tsz Hang, Chiu Wang Zheng, Breedveld Guido J, Li Ka Wan, Verkerk Annemieke J M H, Hondius David, Hukema Renate K, Seelaar Harro, Frick Petra, Severijnen Lies-Anne, Lammers Gert-Jan, Lebbink Joyce H G, van Duinen Sjoerd G, Kamphorst Wouter, Rozemuller Annemieke J, Bakker E Bert, Neumann Manuela, Willemsen Rob, Bonifati Vincenzo, Smit August B, van Swieten John

Abstract excerpt

Pathological accumulation of intermediate filaments can be observed in neurodegenerative disorders, such as Alzheimer's disease, frontotemporal dementia and Parkinson's disease, and is also characteristic of neuronal intermediate filament inclusion disease. Intermediate filaments type IV include three neurofilament proteins (light, medium and heavy molecular weight neurofilament subunits) and α-internexin. The...

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PMID: 24722252
DOI: 10.1093/brain/awu067

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