Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene ( C9ORF72 ) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a cohort of 231 probands with ALS,...

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Veröffentlicht in:	Acta neuropathologica 2012-03, Vol.123 (3), p.409-417
Hauptverfasser:	Stewart, Heather, Rutherford, Nicola J., Briemberg, Hannah, Krieger, Charles, Cashman, Neil, Fabros, Marife, Baker, Matt, Fok, Alice, DeJesus-Hernandez, Mariely, Eisen, Andrew, Rademakers, Rosa, Mackenzie, Ian R. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Amyotrophic Lateral Sclerosis - pathology Anatomy Brain - metabolism Brain - pathology C9orf72 Protein Cerebellum chromosome 9 Chromosomes Chromosomes, Human, Pair 9 Comparative analysis Dementia Dementia disorders DNA-Binding Proteins - metabolism Frontotemporal dementia Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Frontotemporal Dementia - pathology Genes Genetic aspects Humans Medicine Medicine & Public Health Mutation Neuropathology Neurosciences Original Paper Pathology Proteins - genetics Proteins - metabolism Spinal Cord - metabolism Spinal Cord - pathology
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