Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease

Acta Neuropathol. 2014 Feb;127(2):297-8. doi: 10.1007/s00401-013-1229-z. Epub 2013 Dec 14.

Authors

Annica Rönnbäck¹, Inger Nennesmo, Hannu Tuominen, Fiona Grueninger, Matti Viitanen, Caroline Graff

Affiliation

¹ Department of Neurobiology, Care Sciences and Society, Karolinska Institutet Alzheimer Disease Research Center (KI-ADRC), Karolinska Institutet, Novum level 5, Huddinge, 141 86, Stockholm, Sweden, [email protected].

PMID: 24337498
DOI: 10.1007/s00401-013-1229-z

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Exons / genetics
Humans
Middle Aged
Mutation / genetics*
Neurodegenerative Diseases / genetics*
Neurodegenerative Diseases / metabolism
Neurodegenerative Diseases / pathology*
Neurons / metabolism
Neurons / pathology
Siblings
Sweden
Temporal Lobe / metabolism
Temporal Lobe / pathology
tau Proteins / genetics*
tau Proteins / metabolism

Substances

MAPT protein, human
tau Proteins