Ontology highlight
ABSTRACT:
SUBMITTER: Takada LT
PROVIDER: S-EPMC3625641 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Takada Leonel T LT Pimentel Maria Lucia V ML Dejesus-Hernandez Mariely M Fong Jamie C JC Yokoyama Jennifer S JS Karydas Anna A Thibodeau Marie-Pierre MP Rutherford Nicola J NJ Baker Matthew C MC Lomen-Hoerth Catherine C Rademakers Rosa R Miller Bruce L BL
Archives of neurology 20120901 9
<h4>Objectives</h4>To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral sclerosis-causing mutations.<h4>Design</h4>Report of a kindred.<h4>Setting</h4>Dementia center at a university hospital.<h4>Patients</h4>One kindred encompassing 3 generations.<h4>Results</h4>The presence of a hexanucleotide (GGGGCC) expansion in C9 ...[more]