Behavioral Variant Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis with a Chromosome 9p21 Hexanucleotide Repeat
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چکیده
منابع مشابه
Behavioral Variant Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis with a Chromosome 9p21 Hexanucleotide Repeat
To determine the genetic basis of familial frontotemporal lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS) we performed a clinical and genetic analysis of an affected family. A 51-year-old man with behavioral variant FTLD with ALS had a family history of the disease suggestive of autosomal dominant inheritance with incomplete penetrance. Genetic studies in this patient demonst...
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BACKGROUND TDP-43 is the main protein component of ubiquitinated inclusions in a subgroup of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) patients. The C9ORF72 hexanucleotide expansion is one of the main mutations associated with TDP-43 pathology in FTLD and ALS. Our aim was to analyze cerebrospinal fluid (CSF) TDP-43 levels and Alzheimer's disease biomarkers...
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Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). G-rich sequences have a propensity for forming highly stable quadruplex structures in both RNA and DNA termed G-quadruplexes. G-quadruplexes have been shown to be involved in a range of processes including telome...
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The discovery of the C9ORF72 gene mutation as a cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) represents a clear victory in the war against neurodegenerative disorders although the scale of the discovery is, at present, hard to judge. Is it a skirmish or a battle won; or even the collapse of a vital salient in the enemy’s defense system that will lead t...
متن کاملDistinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis
The identification of the TAR DNA-binding protein 43 (TDP-43) as the ubiquitinated cytoplasmic inclusions in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) confirmed that these two diseases share similar mechanisms, likely to be linked to the abnormal hyperphosphorylation, ubiquitination and cleavage of pathological TDP-43. Importantly however, a quantitative a...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2012
ISSN: 1664-2295
DOI: 10.3389/fneur.2012.00136