Neurofilaments in pre-symptomatic ALS and the impact of genotype

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Benatar, Michael (author)

Neurofilaments in pre-symptomatic ALS and the impact of genotype

Article/chapterEnglish2019

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2019-08-21
Taylor & Francis,2019
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LIBRIS-ID:oai:DiVA.org:umu-163682
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-163682URI
https://doi.org/10.1080/21678421.2019.1646769DOI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

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Objective. To evaluate serum and cerebrospinal fluid (CSF) levels of phosphorylated neurofilament heavy (pNfH), and to compare these to levels of neurofilament light (NfL), as biomarkers of pre-symptomatic ALS. Design. The study population includes 34 controls, 79 individuals at-risk for ALS, 22 ALS patients, and 14 phenoconverters. At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation, but who demonstrate no clinical evidence of disease at the time of enrollment. pNfH and NfL in serum and CSF were quantified using established enzyme-linked immunosorbent assays. Results. There is a longitudinal increase in serum pNfH in advance of the emergence of clinically manifest ALS. A similar pattern is observed for NfL, but with the absolute levels also frequently exceeding a normative threshold. Although CSF data are more sparse, similar patterns are observed for both neurofilaments, with absolute levels exceeding a normative threshold prior to phenoconversion. In serum, these changes are observed in the 6-12 months prior to disease among SOD1 A4V mutation carriers, and as far back as 2 and 3.5 years, respectively, in individuals with a FUS c.521del6 mutation and a C9ORF72 hexanucleotide repeat expansion. Conclusions. Serum and CSF pNfH increase prior to phenoconversion. In CSF, the temporal course of these changes is similar to NfL. In serum, however, pNfH is less sensitive to pre-symptomatic disease than NfL. The duration of pre-symptomatic disease, as defined by changes in neurofilaments, may vary depending on underlying genotype.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Reumatologi och inflammation hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Rheumatology and Autoimmunity hsv//eng
Amyotrophic lateral sclerosis
neurofilaments
biomarkers
pre-symptomatic
disease prevention

Added entries (persons, corporate bodies, meetings, titles ...)

Wuu, Joanne (author)
Lombardi, Vittoria (author)
Jeromin, Andreas (author)
Bowser, Robert (author)
Andersen, Peter M.,1962-Umeå universitet,Klinisk neurovetenskap(Swepub:umu)pean0001 (author)
Malaspina, Andrea (author)
Umeå universitetKlinisk neurovetenskap (creator_code:org_t)

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In:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: Taylor & Francis20:7-8, s. 538-5482167-84212167-9223

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Rheumatology and ...

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