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Mutations in the gene in C9orf72 cause an intersection between amyotrophic lateral sclerosis (ALS) and FTD.
clinical manifestations, both diseases are likely to exhibit behavior, language disorders (in FTD) or motor dysfunction (in ALS).
alS study included routine biomarkers, imaging, clinical and neuropsychological tests.
method: A total of 36 asymptomatic C9orf72 gene mutation carriers from the ALS or FTD family were examined, including 21 subjects with C9orf72 gene mutation and 15 subjects with SOD1 mutation.
compared the data with 91 healthy subjects with age, education and gender (56 first-degree relatives from ALS or FTD families and 35 without ALS/FTD family history).
an MRI dispersion imaging scan to map fraction aniso-heterogeneity (FA).
subjects conducted extensive neuropsychological assessments to address language fluidity, language, execution, memory and visual spatial functions.
after 12 months.
results: Compared to SOD1 mutations or healthy subjects, the oral fluentness and nonlingual memory of carriers of C9orf72 gene mutations were significantly worse, and there were significant changes in structural whiteness integrity, with lower FA values in the lower and forehead cortline regions.
loss of structural integrity is related to the decline in oral fluentness.
, whiteness and cognitive ability did not change for 12 months in all subjects.
: The decline in speech fluency appears to be a unique clinical feature of carriers of C9orf72 before symptomatic seizures, and no evidence of change over time was found in the study.
these results support new theories of general developmental disorders in addition to neurodegeneration in C9orf72 carriers.
original link: Lulé DE, Müller H, Finsel J, et al-Des in verbal fluency in presymptomatic C9orf72 mutation gene carriers-a developmental Journal of Neurology, Neurosurgery and Psygy Published Online First: 27 August 2020. doi: 10.1136/jnnp-2020-323671MedSci Original Source: MedSci Original !-- Content Presentation End -- !-- Judge Whether to Log In End.
