Prognostic factors in C9orf72 amyotrophic lateral sclerosis.
نویسندگان
چکیده
310 Cerebral glucose metabolism and cognition in newly diagnosed Parkinson’s disease: ICICLEPD study M J Firbank, A J Yarnall, R A Lawson, G W Duncan, T K Khoo, G S Petrides, J T O’Brien, R A Barker, R J Maxwell, D J Brooks, D J Burn 317 ICARUS study: prevalence and clinical features of impulse control disorders in Parkinson’s disease A Antonini, P Barone, U Bonuccelli, K Annoni, M Asgharnejad, P Stanzione
منابع مشابه
An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes...
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Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinop...
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A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical d...
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Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding c...
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We previously discovered a frameshift variant in ARHGEF28, encoding rho guanine nucleotide exchange factor (RGNEF), in a patient with amyotrophic lateral sclerosis (ALS) following our observation of RGNEF cytoplasmic inclusions in the patient’s motor neurons. This variant was subsequently observed in a Chinese cohort of patients with ALS and in ALS-discordant identical twins. Herein, we describ...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 88 4 شماره
صفحات -
تاریخ انتشار 2017