Abstract
Modern technology has improved the ability to probe effectively the underlying biology of ALS by examination of genomic, proteomic and physiological changes in patients with ALS, as well as to monitor functional and structural changes during the course of disease. While effective treatments for ALS are lacking, the discovery of sensitive biomarkers to disease activity offers clinicians tools for rapid diagnosis and insights into the pathophysiology of ALS. The ultimate aim is to lessen reliance on clinical measures and survival as trial endpoints and broaden the therapeutic options for patients with this disease.
Highlights
The earliest descriptions of amyotrophic lateral sclerosis (ALS) were made in the late 1800s, and the understanding of the clinical and pathological heterogeneity of ALS has made a major advance in the last 30 years
Nearly one-quarter of patients who present with progressive muscular atrophy (PMA) develop signs of upper motor neuron (UMN) disease within 5 years of diagnosis [4]. while patients with primary lateral sclerosis (PLS) presenting isolated UMN signs evolve lower motor neuron (LMN) features over time [5]
Multiple methodological advancements have led to the discovery of various biomarkers for ALS
Summary
The earliest descriptions of amyotrophic lateral sclerosis (ALS) were made in the late 1800s, and the understanding of the clinical and pathological heterogeneity of ALS has made a major advance in the last 30 years. Tissue and biofluid biomarkers (Table 1) Biofluids Cerebrospinal fluid (CSF) CSF is an ideal biofluid for biomarker discovery due to its approximation to the brain and spinal cord regions. It might reflect pathophysiological alterations in disease progression, and it could provide an insight into disease pathogenesis. MMPs are involved in mediation of disruption of BBB, and contribute to ALS pathology, but future researches concerning
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