Cargando…

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

OBJECTIVE: While the anticipated rise of disease‐modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic paraplegia type 4 (SPG4), the most prevalent form of hereditary spastic paraplegia. We therefore investigated serum neurofilament light chain (sNf...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kessler, Christoph, Serna‐Higuita, Lina Maria, Wilke, Carlo, Rattay, Tim W., Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva‐Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis, Schöls, Ludger, Martus, Peter, Schüle, Rebecca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8935322/ https://www.ncbi.nlm.nih.gov/pubmed/35171517 http://dx.doi.org/10.1002/acn3.51518

Ejemplares similares

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia
por: Kessler, Christoph, et al.
Publicado: (2021)

Serum neurofilament light chain is increased in hereditary spastic paraplegias
por: Wilke, Carlo, et al.
Publicado: (2018)

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
por: Thal, Dietmar R., et al.
Publicado: (2015)

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
por: Schlipf, Nina A, et al.
Publicado: (2014)

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
por: Karle, Kathrin N, et al.
Publicado: (2013)

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4
por: Kessler, Christoph, et al.
Publicado: (2022)

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
por: Synofzik, Matthis, et al.
Publicado: (2014)

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias
por: Bis, Dana M., et al.
Publicado: (2017)

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
por: Helbig, Katherine L., et al.
Publicado: (2016)

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes
por: Wiethoff, Sarah, et al.
Publicado: (2012)

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
por: Newton, Timothy, et al.
Publicado: (2018)

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
por: Wagner, Matias, et al.
Publicado: (2019)

Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia
por: Lassmann, Christian, et al.
Publicado: (2023)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)
por: Lindig, Tobias, et al.
Publicado: (2022)

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
por: Rattay, Tim W., et al.
Publicado: (2018)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
por: Jahic, Amir, et al.
Publicado: (2015)

mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5
por: Hauser, Stefan, et al.
Publicado: (2019)

A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
por: Wang, Lina, et al.
Publicado: (2010)

Hereditary spastic paraplegia with thin corpus callosum
por: Raina, Sujeet, et al.
Publicado: (2009)

Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias
por: Edmison, Daisy, et al.
Publicado: (2021)

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonda, Sonia, et al.
Publicado: (2021)

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
por: Tadepalle, Nimesha, et al.
Publicado: (2021)

Dysarthria in hereditary spastic paraplegia type 4
por: Jacinto-Scudeiro, Lais Alves, et al.
Publicado: (2022)

Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias
por: Cubillos Arcila, Diana Maria, et al.
Publicado: (2023)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia
por: Kara, Eleanna, et al.
Publicado: (2016)

Clinical and genetic study of hereditary spastic paraplegia in Canada
por: Chrestian, Nicolas, et al.
Publicado: (2016)

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias
por: Trummer, Brian, et al.
Publicado: (2018)

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children
por: Kamate, Mahesh, et al.
Publicado: (2019)

Pure or Complex Hereditary Spastic Paraplegia Type 4?
por: Finsterer, Josef
Publicado: (2019)

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
por: Saputra, Lydia, et al.
Publicado: (2021)

Hereditary spastic paraplegia initially diagnosed as cerebral palsy
por: Suchowersky, Oksana, et al.
Publicado: (2021)

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
por: Regensburger, Martin, et al.
Publicado: (2022)

Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia
por: Pérez-Moreno, Juan José
Publicado: (2023)

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia☆
por: Gao, Yu, et al.
Publicado: (2012)

Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners
por: Zhao, Jiali, et al.
Publicado: (2015)

First patient with hereditary spastic paraplegia type 8 in Poland
por: Bogucki, Piotr, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_bqmcs11fhlfla4lifhn7s0i41e