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Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen
  1. Benedikt Winter1,
  2. René Guenther2,
  3. Albert Christian Ludolph3,
  4. Andreas Hermann2,
  5. Markus Otto3,
  6. Claudia Diana Wurster3
  1. 1 Department of Pediatrics, Ulm University, Ulm, Germany
  2. 2 Department of Neurology, Technische Universität Dresden and German Center for Neurodegenerative Diseases, Research Side Dresden, Dresden, Germany
  3. 3 Department of Neurology, Ulm University, Ulm, Germany
  1. Correspondence to Dr Claudia Diana Wurster, Department of Neurology, Ulm University, Ulm 89081, Germany; claudia.wurster{at}uni-ulm.de

https://doi.org/10.1136/jnnp-2018-320033

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    Spinal muscular atrophy (SMA) is a monogenetic motoneuron disease with onset in childhood or adolescence, clinically characterised by spinal and bulbar muscle weakness and atrophy. SMA type 1 is the acute and thus most severe form of disease, where an early and progressive loss of motoneurons occurs. Recently, the antisense-oligonucleotide nusinersen has been approved for treatment. Nusinersen has to be administered intrathecally by lumbar puncture on days 0, 14, 28 and 63 followed by maintenance therapy at intervals of 4 months. Clinical studies showed an improvement in motor function, particularly in patients with SMA type 1.1

    Neurofilaments (Nf) are important structural elements of neurons and their axons.2 In various neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), increased cerebrospinal fluid (CSF) levels of Nf were observed and their usefulness for diagnosis and prognosis was demonstrated.3 Increased CSF tau levels have been found in several neurological diseases associated with significant neuronal loss; however, it still remains a matter of debate whether CSF tau can serve as diagnostic marker in ALS.4 5

    Therefore, the question arises, what role CSF Nf and tau play in SMA and how important the use of these parameters in SMA could be with regard to new therapies. …

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    Footnotes

    • Contributors BW and CDW: major role in the acquisition of data; wrote the manuscript. RG and AH: designed and conceptualised the project; interpreted the data; revised the manuscript for intellectual content. ACL: interpreted the data; revised the manuscript for intellectual content. MO: designed and conceptualised the project; analysed and interpreted the data; revised the manuscript for intellectual content. BW submitted the manuscript.

    • Funding The work was supported in part by grants from the German Federal Ministry of Education and Research (project FTLDc 01GI1007A, MND-Net 01GI0704), PreFrontAls (01ED1512), The ALS Association, the Thierry Latran Foundation and the Charcot Foundation for ALS Research.

    • Competing interests BW has received honoraria from Biogen for a lecture. RG has received honoraria from Biogen as an advisory board member. ACL received financial research support from AB Science, Biogen Idec, Cytokinetics, GSK, Orion Pharma, Novartis, TauRx Therapeutics and Teva Pharmaceuticals. He also has received honoraria as a consultant from Mitsubishi, Orion Pharma, Novartis and Teva, and as an advisory board member of Biogen, Treeway and Hoffmann-La Roche. MO received honoraria as consultant for Biogen, Axon and Fujirebio. CDW has received honoraria from Biogen as an advisory board member and for lectures, and as a consultant from Hoffmann-La Roche.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.