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Comment on: multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension
Dear editor, Over the last years, advances in spontaneous intracranial hypotension (SIH) have allowed earlier and more accurate diagnosis, when compared with the past, with better management and lower rates of complications.1 Most cases of SIH are deemed to result from spontaneous cerebrospinal fluid (CSF) leaks. CSF leakage from disrupted spinal meninges can cause epidural collections, then leading to intracranial hypotension and postural headache. Accordingly, MRI frequently shows such spinal CSF collections in association with brain abnormalities including pachymeningeal enhancement, subdural effusions and sagging brain...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Esposito, A., Ugga, L., Tedeschi, E., Iodice, R., Moccia, M. Tags: PostScript Source Type: research

Donatellos rilievo schiacciato sculpture: challenges and implications for the visual brain
Usually, the eye and the brain can easily differentiate between a flat, two-dimensional picture and a typical three-dimensional sculpture in the round. Yet the emergence of an unusual form of Renaissance relief sculpture suggests that this observation merits further consideration. In Florence around 1415, that most accomplished of sculptors Donato dei Bardi, commonly known as Donatello, devised a variety of very low sculptural relief known by the Italian term rilievo schiacciato—‘flattened out’ or ‘squashed’ relief.1 An extreme form of bas-relief, this form of sculpture comprises carving with ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Schott, G. D. Tags: Occasional essay Source Type: research

Non-invasive fluid biomarkers in the diagnosis of mild traumatic brain injury (mTBI): a systematic review
The objective of this study is to systematically review the utility of such biomarkers to diagnose mTBI and predict disease progression. Methods A systematic review performed in PubMed, Scopus, Cochrane and Web of Science followed by a manual search of references without a specified timeframe. Search strings were generated and run (27 June 2022) by a research librarian. Studies were included if they: (1) included human mTBI subjects, (2) assessed utility of a non-invasive biomarker and (3) published in English. Exclusion criteria were (1) non-mTBI subjects, (2) mTBI not assessed separately from moderate/severe TBI, (3) re...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Feinberg, C., Mayes, K. D., Portman, E., Carr, C., Mannix, R. Tags: General neurology Source Type: research

Comparative neural correlates of DBS and MRgFUS lesioning for tremor control in essential tremor
Conclusion Comparing the efficacy maps of DBS and MRgFUS suggests a potential alternative location for lesioning, more antero-superiorly. This may reduce complications, without sacrificing efficacy, and individualise targeting. Trial registration number NCT02252380. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Germann, J., Santyr, B., Boutet, A., Sarica, C., Chow, C. T., Elias, G. J. B., Vetkas, A., Yang, A., Hodaie, M., Fasano, A., Kalia, S. K., Schwartz, M. L., Lozano, A. M. Tags: Editor's choice Neurosurgery Source Type: research

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Conclusions GAA-FGF14-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and should be included in the differential diagnosis of RFC1 CANVAS and disease spectrum. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Pellerin, D., Wilke, C., Traschütz, A., Nagy, S., Curro, R., Dicaire, M.-J., Garcia-Moreno, H., Anheim, M., Wirth, T., Faber, J., Timmann, D., Depienne, C., Rujescu, D., Gazulla, J., Reilly, M. M., Giunti, P., Brais, B., Houlden, H., Schöl Tags: Open access Neurogenetics Source Type: research

Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
Conclusions Isolated cerebellar ataxia without SG makes the diagnosis of CANVAS due to RFC1 expansions highly improbable, but CANVAS is frequently the cause of the combination of idiopathic cerebellar ataxia with SG. It is important to screen patients diagnosed with other causes of acquired ataxia and SG as a small percentage were found to have RFC1 expansions. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Hadjivassiliou, M., Curro, R., Beauchamp, N., Dominik, N., Grunewald, R. A., Shanmugarajah, P., Zis, P., Hoggard, N., Cortese, A. Tags: Open access Movement disorders Source Type: research

Uncovering neuroanatomical correlates of impaired coordinated movement after pallidal deep brain stimulation
Conclusions These stimulation-induced impairments are likely a manifestation of a broader deficit in interlimb coordination mediated by stimulation effects on the SMA. This neuroanatomical underpinning can help inform future patient-specific stimulation and targeting. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Santyr, B., Loh, A., Vetkas, A., Gwun, D., Fung, W. K., Qazi, S., Germann, J., Boutet, A., Sarica, C., Yang, A., Elias, G., Kalia, S. K., Fasano, A., Lozano, A. M. Tags: Movement disorders Source Type: research

Long-term effectiveness of a cognitive behavioural therapy (CBT) in the management of fatigue in patients with relapsing remitting multiple sclerosis (RRMS): a multicentre, randomised, open-label, controlled trial versus standard care
Conclusions A 6-week CBT-based programme with four booster sessions is superior to standard care alone to treat MS-related fatigue in the long term (12 months follow-up). The results support the use of the FACETS+ programme for the treatment of MS-related fatigue. Trial registration number NCT03758820. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Gay, M. C., Cassedanne, F., Barbot, F., Vaugier, I., Thomas, S., Manchon, E., Bensmail, D., Blanchere, M., Heinzlef, O. Tags: Open access Multiple sclerosis Source Type: research

Early postpartum treatment strategies and early postpartum relapses in women with active multiple sclerosis
Conclusion In active MS, an early postpartum treatment strategy should be determined well before delivery. Natalizumab/fingolimod-strategy reduced postpartum relapse hazard from month 3, but none diminished the early postpartum relapse hazard. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Haben, S., Ciplea, A. I., Tokic, M., Timmesfeld, N., Thiel, S., Gold, R., Langer-Gould, A. M., Hellwig, K. Tags: JNNP Patients' choice, Open access Multiple sclerosis Source Type: research

Assessing treatment response to oral drugs for multiple sclerosis in real-world setting: a MAGNIMS Study
Conclusions Early relapses and substantial MRI activity in the first year of treatment are associated with worse short-term outcomes in patients treated with some of the oral DMTs. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Ruggieri, S., Prosperini, L., Al-Araji, S., Annovazzi, P. O., Bisecco, A., Ciccarelli, O., De Stefano, N., Filippi, M., Fleischer, V., Evangelou, N., Enzinger, C., Gallo, A., Garjani, A., Groppa, S., Haggiag, S., Khalil, M., Lucchini, M., Mirabella, M., M Tags: Multiple sclerosis Source Type: research

Trajectories of cognitive processing speed and physical disability over 11 years following initiation of a first multiple sclerosis disease-modulating therapy
Conclusions In this cohort of actively treated RRMS, patients’ processing speed remained stable over the years following DMT start, whereas patients with moderate physical disability deteriorated in physical function. Nevertheless, there was a strong link between processing speed and disability after DMT start. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Longinetti, E., Englund, S., Burman, J., Fink, K., Fogdell-Hahn, A., Gunnarsson, M., Hillert, J., Langer-Gould, A. M., Lycke, J., Nilsson, P., Salzer, J., Svenningsson, A., Mellergard, J., Olsson, T., Piehl, F., Frisell, T. Tags: Open access Multiple sclerosis Source Type: research

Haematopoietic stem cell transplantation for treatment of relapsing-remitting multiple sclerosis in Sweden: an observational cohort study
Conclusions Treatment with aHSCT for RRMS is associated with freedom from disease activity in a majority of patients, with acceptable adverse events. This procedure should be considered a standard of care for patients with highly active RRMS. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Silfverberg, T., Zjukovskaja, C., Ljungman, P., Nahimi, A., Ahlstrand, E., Dreimane, A., Einarsdottir, S., Fagius, J., Iacobaeus, E., Hägglund, H., Lange, N., Lenhoff, S., Lycke, J., Mellergard, J., Piehl, F., Svenningsson, A., Tolf, A., Cherif, H Tags: Open access, Press releases Multiple sclerosis Source Type: research

Ultrasensitive assay technology and fluid biomarkers for the evaluation of peripheral nerve disease
The field of biomarker discovery is rapidly expanding. The introduction of ultrasensitive immunoassays and the growing precision of genetic technologies are poised to revolutionise the assessment and monitoring of many diseases. Given the difficulties in imaging and tissue diagnosis, there is mounting interest in serum and cerebrospinal fluid biomarkers of peripheral neuropathy. Realised and potential fluid biomarkers of peripheral nerve disease include neuronal biomarkers of axonal degeneration, glial biomarkers for peripheral demyelinating disorders, immunopathogenic biomarkers (such as the presence and titre of antibodi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Bellanti, R., Keddie, S., Lunn, M. P., Rinaldi, S. Tags: Neuromuscular Source Type: research

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
Conclusions SPTLC2 is the second SPT-associated gene that underlies monogenic, juvenile ALS and further establishes alterations of sphingolipid metabolism in motor neuron disease pathogenesis. Our findings also have important therapeutic implications: serine supplementation must be avoided in SPT-associated ALS, as it is expected to drive pathogenesis further. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Syeda, S. B., Lone, M. A., Mohassel, P., Donkervoort, S., Munot, P., Franca, M. C., Galarza-Brito, J. E., Eckenweiler, M., Asamoah, A., Gable, K., Majumdar, A., Schumann, A., Gupta, S. D., Lakhotia, A., Shieh, P. B., Foley, A. R., Jackson, K. E., Chao, K. Tags: Open access Neuromuscular Source Type: research

Emerging role for sphingolipids in the genetics of amyotrophic lateral sclerosis
Neurodevelopmental contributions to disease causation While the mechanisms that trigger the development of amyotrophic lateral sclerosis (ALS) remain to be determined, recent decades have witnessed a surge of clinical and community interest, and the emergence of a therapeutic pipeline. At the most basic level of interpretation, neurodegeneration in ALS reflects a complex interplay between genetic factors and the environment, with consequent dysfunction of molecular pathways and network circuitry.1 Of relevance to this expanding knowledge about disease pathogenesis, the present issue of JNNP includes scientific report of a ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Kiernan, M. C., Farrar, M. A. Tags: Editorial commentaries Source Type: research