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.
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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.

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A 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).

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