Methods: Electronic databases were searched using terms related to frontotemporallobardegeneration and movement disorders.
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Mutations in the gene encoding PGRN give rise to shortage of PGRN and cause familial frontotemporallobardegeneration.
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Summary: This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporallobardegeneration.
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These findings further highlight that plasma PGRN levels may not accurately predict clinical features or response to future frontotemporallobardegeneration therapies.
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Mutations in various RBPs cause several diseases of the central nervous system, including frontotemporallobardegeneration, amyotrophic lateral sclerosis and fragile X syndrome.
Uso de ftld em inglês
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Objective: To compare demographic characteristics of patients in the 3 FTLD subgroups.
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Results: The frontotemporal dementia subgroup represented approximately half of all FTLD diagnoses.
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The publication of consensus criteria for FTLD, however, prompted systematic studies.
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FTLD is a more common form of dementia than previously recognized.
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Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS.
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In most ALS and FTLD cases, the predominant pathological species are RNA-binding proteins.
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Extrapyramidal motor symptoms were more likely to be present in FTLD.
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However, no increases were observed in any of the five factor scores in FTLD.
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Autopsy in three family members showed a consistent and unique subtype of FTLD-TDP pathology.
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Hence, ALS and FTLD converge in pathogenic pathways disrupting the regulation of RNA processing.
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The sex and age-at-onset differences suggest that there may be biological differences among FTLD subgroups.
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There was no significant FTLD or motor neuron disease.
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This suggests additional variants and genes that remain to be identified as risk factors for FTLD.
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These findings highlight this process as a novel and promising therapeutic target for ALS and FTLD.
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Moreover, 19 proteins were selectively decreased in FTLD-U.
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The present review aims to underscore the necessity of further elucidation of PGRN biology in FTLD-related neurodegeneration.