Publications by authors named "Alexander R Burch"
Article Synopsis
- - The development of effective therapies for frontotemporal dementia (FTD) is hindered by a lack of reliable biomarkers for susceptibility, diagnosis, and prognosis.
- - Blood neurofilament light (NfL) shows potential as a biomarker, with elevated levels found in all FTD syndromes and in individuals carrying FTD mutations before any symptoms appear.
- - Measuring plasma NfL could help identify at-risk individuals for early diagnosis and treatment trials, ultimately improving patient care and trial outcomes.
Given the heterogeneity of stroke brain injury, there is a clear need for a biomarker that determines the degree of neuroaxonal injury across stroke types. We evaluated whether blood neurofilament light (NFL) would fulfill this purpose for patients with acute cerebral infarction (ACI; = 227), aneurysmal subarachnoid hemorrhage (aSAH; = 58), or nontraumatic intracerebral hemorrhage (ICH; = 29). We additionally validated our findings in two independent cohorts of patients with ICH ( = 96 and = 54) given the scarcity of blood biomarker studies for this deadliest stroke type.
View Article and Find Full Text PDFA GC hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TGC repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs).
View Article and Find Full Text PDF