Blood neurofilament light chain as a surrogate marker for dystonia

Dystonia is a heterogeneous movement disorder, and it remains unclear whether neurodegeneration is involved. Neurofilament light chain (NfL) is a biosignature of neurodegeneration. We aimed to investigate whether plasma NfL levels were elevated and associated with disease severity in patients with dystonia.

[1]  A. Yabacı,et al.  Evaluation of miR-526b-3p, miR-1179, miR-3529-3p, miR-5011-5p as potential diagnostic biomarkers in isolated cervical dystonia. , 2023, Revue neurologique.

[2]  C. Tai,et al.  Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia. , 2023, Parkinsonism & related disorders.

[3]  K. Blennow,et al.  The multifaceted role of neurofilament light chain protein in non-primary neurological diseases , 2022, Brain : a journal of neurology.

[4]  C. Tax,et al.  Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings , 2022, European journal of neurology.

[5]  A. Berardelli,et al.  Neurofilament assessment in patients with cervical dystonia. , 2022, Parkinsonism & related disorders.

[6]  C. Tai,et al.  A clinical and integrated genetic study of isolated and combined dystonia in Taiwan. , 2022, The Journal of molecular diagnostics : JMD.

[7]  C. Gieger,et al.  Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. , 2021, Brain : a journal of neurology.

[8]  J. Perlmutter,et al.  Neuropathology of blepharospasm , 2021, Experimental Neurology.

[9]  B. Bloem,et al.  Reader response: Blood NfL: A biomarker for disease severity and progression in Parkinson disease , 2020, Neurology.

[10]  Trisha J. Multhaupt-Buell,et al.  TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism , 2020, Movement disorders : official journal of the Movement Disorder Society.

[11]  C. Enzinger,et al.  Serum neurofilament light levels in normal aging and their association with morphologic brain changes , 2020, Nature Communications.

[12]  Ludwig Kappos,et al.  Neurofilaments as biomarkers in neurological disorders , 2018, Nature Reviews Neurology.

[13]  B. Berman,et al.  Isolated focal dystonia phenotypes are associated with distinct patterns of altered microstructure , 2018, NeuroImage: Clinical.

[14]  M. Hallett,et al.  Pedunculopontine Nucleus Cholinergic Deficiency in Cervical Dystonia , 2018, Movement disorders : official journal of the Movement Disorder Society.

[15]  Yao-Sheng Chen,et al.  Taiwan Biobank: making cross-database convergence possible in the Big Data era , 2017, GigaScience.

[16]  A. Graybiel,et al.  Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[17]  M. Hallett,et al.  Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia , 2016, Acta neuropathologica communications.

[18]  M. Staufenbiel,et al.  Neurofilament Light Chain in Blood and CSF as Marker of Disease Progression in Mouse Models and in Neurodegenerative Diseases , 2016, Neuron.

[19]  J. Hardy,et al.  DYT6 Dystonia: A Neuropathological Study , 2015, Neurodegenerative Diseases.

[20]  F. Cardoso.  Dystonia , 2015, Journal of the Neurological Sciences.

[21]  F. Cendes,et al.  White Matter Microstructure in Idiopathic Craniocervical Dystonia , 2015, Tremor and other hyperkinetic movements.

[22]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[23]  B. Ghetti,et al.  Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings , 2014, Acta Neuropathologica.

[24]  H. Jinnah,et al.  Dystonia as a network disorder: What is the role of the cerebellum? , 2014, Neuroscience.

[25]  T. Benzinger,et al.  Diffusion tensor MRI as a biomarker in axonal and myelin damage. , 2013, Imaging in medicine.

[26]  M. Hallett,et al.  Phenomenology and classification of dystonia: A consensus update , 2013, Movement disorders : official journal of the Movement Disorder Society.

[27]  J. Mink,et al.  Dystonia rating scales: Critique and recommendations , 2013, Movement disorders : official journal of the Movement Disorder Society.

[28]  J. Hanfelt,et al.  Neuropathology of cervical dystonia , 2013, Experimental Neurology.

[29]  S. Bressman,et al.  Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia , 2009, Nature Genetics.

[30]  Alexander Kapustin,et al.  Brainstem pathology in DYT1 primary torsion dystonia , 2004, Annals of neurology.

[31]  Joanne Wuu,et al.  Rating scales for dystonia: A multicenter assessment , 2003, Movement disorders : official journal of the Movement Disorder Society.

[32]  T. Landis,et al.  Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14 , 2002, Neurology.

[33]  M. Brin,et al.  TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia , 2002, Neurology.

[34]  E. Muñoz,et al.  Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP) , 2001, Molecular pathology : MP.

[35]  D. Woitalla,et al.  Elevated plasma levels of homocysteine in dystonia , 2000, Acta neurologica Scandinavica.

[36]  C. Marsden,et al.  Validity and reliability of a rating scale for the primary torsion dystonias , 1985, Neurology.

[37]  H. Jinnah,et al.  Evolving concepts in the pathogenesis of dystonia. , 2018, Parkinsonism & related disorders.