Elevated serum neurofilament light chain in children autism spectrum disorder: A case control study

He, Weichao; Zhang, Xu-Jie; Zhang, You-qi; Zhang, Weijie

doi:10.1016/j.neuro.2020.06.012

Cited by 10 publications

(16 citation statements)

References 46 publications

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“…Assessing infarct‐associated duration of elevated NfL will require repeated MRI imaging correlated with longitudinal plasma testing. In contrast, a growing number of international non‐SCA paediatric studies on NfL reported plasma ranges in normal controls similar to that of our non‐SCA siblings 44,45 . Those data suggest that normal paediatric levels are low and may be similar across diverse backgrounds.…”

Section: Discussionsupporting

confidence: 61%

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Neurofilament light chain: A potential biomarker for cerebrovascular disease in children with sickle cell anaemia

et al. 2023

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SummaryCerebrovascular injury frequently occurs in children with sickle cell anaemia (SCA). Limited access to magnetic resonance imaging and angiography (MRI‐MRA) in sub‐Saharan Africa impedes detection of clinically unapparent cerebrovascular injury. Blood‐based brain biomarkers of cerebral infarcts have been identified in non‐SCA adults. Using plasma samples from a well‐characterized cross‐sectional sample of Ugandan children with SCA, we explored relationships between biomarker levels and MRI‐detected cerebral infarcts and transcranial Doppler (TCD) arterial velocity. Testing was performed using a 4‐plex panel of brain injury biomarkers, including neurofilament light chain (NfL), a central nervous system neuron‐specific protein. Mean biomarker levels from the SCA group (n = 81) were similar to those from non‐SCA sibling controls (n = 54). Within the SCA group, NfL levels were significantly higher in those with MRI‐detected infarcts compared to no infarcts, and higher with elevated TCD velocity versus normal velocity. Elevated NfL remained strongly associated with MRI‐detected infarcts after adjusting for sex and age. All non‐SCA controls and SCA participants lacking MRI‐detected infarcts had low NfL levels. These data suggest potential utility of plasma‐based NfL levels to identify children with SCA cerebrovascular injury. Replication and prospective studies are needed to confirm these novel findings and the clinical utility of NfL versus MRI imaging.

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Section: Discussionsupporting

confidence: 61%

“…In contrast, a growing number of international non-SCA paediatric studies on NfL reported plasma ranges in normal controls similar to that of our non-SCA siblings. 44,45 Those data suggest that normal paediatric levels are low and may be similar across diverse backgrounds.…”

Section: Discussionmentioning

confidence: 96%

Neurofilament light chain: A potential biomarker for cerebrovascular disease in children with sickle cell anaemia

et al. 2023

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“…Specifically, Nf blood levels have been studied in Mitochondrial disorders (Varhaug et al, 2021), CLN3 (Do et al, 2020), Autism Spectrum Disorder (He et al, 2020), Spinal muscular atrophy (SMA) (Darras et al, 2019; Faravelli et al, 2020; Kong et al, 2021; Nitz et al, 2021), Congenital Heart Disease (CHD) (Lee et al, 2018), Beta‐propeller protein‐associated neurodegeneration (BPAN) (Takano et al, 2017), Gangliosidosis (Welford et al, 2022), Febrile seizures (Evers et al, 2020), myotonic dystrophy (Nicoletti et al, 2022), Ceroid lipofuscinosis type 2 (CLN2) (Ru et al, 2019) and Langerhans cell histiocytosis (Sveijer et al, 2022). Plasma NfL levels are over 10‐fold elevated in the gangliosidosis GM1 and GM2 if compared to controls (Welford et al, 2022).…”

Section: Diseasesmentioning

confidence: 99%

Section: Paediatricsmentioning

confidence: 99%

The 2022 Lady Estelle Wolfson lectureship on neurofilaments

Petzold

2022

Journal of Neurochemistry

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Neurofilament proteins (Nf) have been validated and established as a reliable body fluid biomarker for neurodegenerative pathology. This review covers seven Nf isoforms, Nf light (NfL), two splicing variants of Nf medium (NfM), two splicing variants of Nf heavy (NfH), -internexin (INA) and peripherin (PRPH). The genetic and epigenetic aspects of Nf are discussed as relevant for neurodegenerative diseases and oncology. The comprehensive list of mutations for all Nf isoforms covers Amyotrophic Lateral Sclerosis, Charcot-Marie Tooth disease, Spinal muscular atrophy, Parkinson Disease and Lewy Body Dementia. Next, emphasis is given to the expanding field of post-translational modifications (PTM) of the Nf amino acid residues. Protein structural aspects are reviewed alongside PTMs causing neurodegenerative pathology and human autoimmunity. Molecular visualisations of NF PTMs, assembly and stoichiometry make use of Alphafold2 modelling. The implications for Nf function on the cellular level and axonal transport are discussed. Neurofilament aggregate formation and proteolytic breakdown are reviewed as relevant for biomarker tests and disease.Likewise, Nf stoichiometry is reviewed with regard to in vitro experiments and as a compensatory mechanism in neurodegeneration. The review of Nf across a spectrum of 87 diseases from all parts of medicine is followed by a critical appraisal of 33

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“…Moreover, neuro-axonal brain damage releases NF-L proteins, which enter the blood. NF-L level is elevated in the serum of ASD individuals and related to symptom severity, suggesting that NF-L may play a role in ASD progression [ 127 ]. Elevated NF-L in cerebrospinal fluid was exhibited also in the TSC cohort in the study by Liu et al [ 128 ].…”

Section: Discussionmentioning

confidence: 99%

Microtubule Cytoskeletal Network Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders

Gąssowska-Dobrowolska

Czapski

Cieślik

et al. 2023

IJMS

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Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder caused by loss-of-function mutations in the tumour suppressors TSC1/TSC2, both of which are negative regulators of the mammalian target of rapamycin (mTOR) kinase. Importantly, mTOR hyperactivity seems to be linked with the pathobiology of autism spectrum disorders (ASD). Recent studies suggest the potential involvement of microtubule (MT) network dysfunction in the neuropathology of “mTORopathies”, including ASD. Cytoskeletal reorganization could be responsible for neuroplasticity disturbances in ASD individuals. Thus, the aim of this work was to study the effect of Tsc2 haploinsufficiency on the cytoskeletal pathology and disturbances in the proteostasis of the key cytoskeletal proteins in the brain of a TSC mouse model of ASD. Western-blot analysis indicated significant brain-structure-dependent abnormalities in the microtubule-associated protein Tau (MAP-Tau), and reduced MAP1B and neurofilament light (NF-L) protein level in 2-month-old male B6;129S4-Tsc2tm1Djk/J mice. Alongside, pathological irregularities in the ultrastructure of both MT and neurofilament (NFL) networks as well as swelling of the nerve endings were demonstrated. These changes in the level of key cytoskeletal proteins in the brain of the autistic-like TSC mice suggest the possible molecular mechanisms responsible for neuroplasticity alterations in the ASD brain.

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Elevated serum neurofilament light chain in children autism spectrum disorder: A case control study

Cited by 10 publications

References 46 publications

Neurofilament light chain: A potential biomarker for cerebrovascular disease in children with sickle cell anaemia

Neurofilament light chain: A potential biomarker for cerebrovascular disease in children with sickle cell anaemia

The 2022 Lady Estelle Wolfson lectureship on neurofilaments

Microtubule Cytoskeletal Network Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders

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