Emerging molecular biomarker targets for amyotrophic lateral sclerosis

Júlia Costa, Mamede De Carvalho

Research output: Contribution to journalReview article

21 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis is a rapidly progressive neurodegenerative disease that affects upper (UMN) and lower motor (LMN) neurons. It is associated with a short survival and there is no effective treatment, in spite of a large number of clinical trials. Strong efforts have been made to identify novel disease biomarkers to support diagnosis, provide information on prognosis, to measure disease progression in trials and increase our knowledge on disease pathogenesis.Electromyography by testing the function of the LMN can be used as a biomarker of its dysfunction. A number of electrophysiological and neuroimaging methods have been explored to identify a reliable marker of UMN degeneration. Recently, strong evidence from independent groups, large cohorts of patients and multicenter studies indicate that neurofilaments are very promising diagnostic biomarkers, in particular cerebrospinal fluid and blood levels of phosphoneurofilament heavy chain and neurofilament light chain. Furthermore, their increased levels are associated with poor prognosis.Additional studies have been performed aiming to identify other biomarkers, which alone or in combination with neurofilaments could increase the sensitivity and the specificity of the assays. Emerging molecular marker targets are being discovered, but more studies with standardized methods are required in larger cohorts of ALS patients.

Original languageEnglish
Pages (from-to)7-14
Number of pages8
JournalClinica chimica acta; international journal of clinical chemistry
Volume455
DOIs
Publication statusPublished - 1 Apr 2016

Fingerprint

Amyotrophic Lateral Sclerosis
Biomarkers
Intermediate Filaments
Neurodegenerative diseases
Neuroimaging
Cerebrospinal fluid
Electromyography
Motor Neurons
Neurodegenerative Diseases
Multicenter Studies
Neurons
Cerebrospinal Fluid
Disease Progression
Assays
Blood
Cohort Studies
Clinical Trials
Light
Sensitivity and Specificity
Survival

Keywords

  • Amyotrophic lateral sclerosis
  • Biomarker
  • Neurofilaments
  • Progression
  • Survival

Cite this

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Emerging molecular biomarker targets for amyotrophic lateral sclerosis. / Costa, Júlia; De Carvalho, Mamede.

In: Clinica chimica acta; international journal of clinical chemistry, Vol. 455, 01.04.2016, p. 7-14.

Research output: Contribution to journalReview article

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AU - Costa, Júlia

AU - De Carvalho, Mamede

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AB - Amyotrophic lateral sclerosis is a rapidly progressive neurodegenerative disease that affects upper (UMN) and lower motor (LMN) neurons. It is associated with a short survival and there is no effective treatment, in spite of a large number of clinical trials. Strong efforts have been made to identify novel disease biomarkers to support diagnosis, provide information on prognosis, to measure disease progression in trials and increase our knowledge on disease pathogenesis.Electromyography by testing the function of the LMN can be used as a biomarker of its dysfunction. A number of electrophysiological and neuroimaging methods have been explored to identify a reliable marker of UMN degeneration. Recently, strong evidence from independent groups, large cohorts of patients and multicenter studies indicate that neurofilaments are very promising diagnostic biomarkers, in particular cerebrospinal fluid and blood levels of phosphoneurofilament heavy chain and neurofilament light chain. Furthermore, their increased levels are associated with poor prognosis.Additional studies have been performed aiming to identify other biomarkers, which alone or in combination with neurofilaments could increase the sensitivity and the specificity of the assays. Emerging molecular marker targets are being discovered, but more studies with standardized methods are required in larger cohorts of ALS patients.

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