Leukoencephalopathy caused by a 17p13.3 microdeletion
In this report, we describe a novel phenotype of extensive, confluent, paucisymptomatic adult-onset leukoencephalopathy in adults caused by a 248 kb microdeletion of 17p13.3, which unlike other similar microdeletion syndromes has no impact on psychomotor development and has not been associated with any syndromic or extraneurological features so far. Case descriptions The proband (patient... (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Wade, C., Williams, T., Labrum, R., Patel, Y., Cali, E., Davagnanam, I., Adams, M. E., Barkhof, F., Murphy, E., Chataway, J., Houlden, H., Lynch, D. S. Tags: Open access PostScript Source Type: research

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS
Introduction Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe motor neuron disease defined by an onset before the age of 25 with currently no available therapy. Only a few genes have been linked to JALS such as ALS2, FUS, SETX, SPG11, SIGMAR1, and more recently SPTLC1. This gene encodes one of the subunits of serine palmitoyltransferase (SPT), which is the first enzyme for de novo sphingolipid biosynthesis.1 Initially, SPTLC1 was a known cause of hereditary sensory and autonomic neuropathy, type 1A.2 In 2021, Johnson et al3 and Mohassel et al4 extended the phenotype associated with this gene by reporting ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Guissart, C., De la Cruz, E., Flabeau, O., Grapperon, A.-M., Corazza, G., Junilhon, L., Delmas, J.-C., Millecamps, S., Polge, A., Amador, M. d. M., Salachas, F., Rochat, J., Goizet, C., Juntas Morales, R., Lumbroso, S., Philibert, P., Cheillan, D., Mouzat Tags: PostScript Source Type: research

Cognitive and executive impairments in Parkinsons disease psychosis: a Bayesian meta-analysis
Conclusions We report extensive deficits across nine domains as well as subdomains in PD psychosis, with global cognition, processing speed and executive functions as the most likely impaired. The presence of depression may influence task-related performance in PDP, alongside age and PD duration, but not dose of dopamine replacement treatments. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Pisani, S., Gosse, L., Wieretilo, R., Ffytche, D., Velayudhan, L., Bhattacharyya, S. Tags: Open access Neuropsychiatry Source Type: research

Improved naming in patients with Brocas aphasia with tDCS
Conclusions These results indicate that adjuvant tDCS can enhance ST to treat naming in Broca’s aphasia, and this may guide intervention approaches in future studies. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Bonilha, L., Rorden, C., Roth, R., Sen, S., George, M. S., Fridriksson, J. Tags: Cerebrovascular disease Source Type: research

Beyond antithrombotics: recent advances in pharmacological risk factor management for secondary stroke prevention
Patients with ischaemic stroke represent a diverse group with several cardiovascular risk factors and comorbidities, which classify them as patients at very high risk of stroke recurrence, cardiovascular adverse events or death. In addition to antithrombotic therapy, which is important for secondary stroke prevention in most patients with stroke, cardiovascular risk factor assessment and treatment also contribute significantly to the reduction of mortality and morbidity. Dyslipidaemia, diabetes mellitus and hypertension represent common and important modifiable cardiovascular risk factors among patients with stroke, while ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Sagris, D., Ntaios, G., Milionis, H. Tags: Cerebrovascular disease Source Type: research

Direct Versus Indirect Revascularization for Moyamoya: a Large Multicenter Study
Conclusion Since both modalities showed comparable rates of overall total strokes, both modalities of revascularization can be performed depending on the patient’s risk assessment. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: El Naamani, K., Chen, C.-J., Jabre, R., Saad, H., Grossberg, J. A., Dmytriw, A. A., Patel, A. B., Khorasanizadeh, M., Ogilvy, C. S., Thomas, A., Monteiro, A., Siddiqui, A., Cortez, G. M., Hanel, R. A., Porto, G., Spiotta, A. M., Piscopo, A. J., Hasan, D. Tags: Cerebrovascular disease Source Type: research

Reduced long-term mortality after successful resective epilepsy surgery: a population-based study
Conclusions In this large population-based epilepsy surgery cohort, operated patients had a lower all-cause mortality compared with non-operated patients with drug-resistant epilepsy. Seizure freedom was the most important beneficial factor for both all-cause mortality and SUDEP among operated patients. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Granthon, C., Tranberg, A. E., Malmgren, K., Strandberg, M. C., Kumlien, E., Redfors, P. Tags: Open access Epilepsy Source Type: research

Environmental risk scores of persistent organic pollutants associate with higher ALS risk and shorter survival in a new Michigan case/control cohort
Conclusions These data continue to support POPs as important factors for ALS risk and progression and replicate findings in a new cohort. The assessments of POPs in non-Michigan ALS cohorts are encouraged to better understand the global effect and the need for targeted disease risk reduction strategies. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Goutman, S. A., Boss, J., Jang, D.-G., Mukherjee, B., Richardson, R. J., Batterman, S., Feldman, E. L. Tags: Editor's choice Neurodegeneration Source Type: research

Early treatment of type II SMA slows rate of progression of scoliosis
Conclusion This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Coratti, G., Lenkowicz, J., Pera, M. C., D'Amico, A., Bruno, C., Gulli, C., Brolatti, N., Pedemonte, M., Antonaci, L., Ricci, M., Capasso, A., Cicala, G., Cutrona, C., de Sanctis, R., Carnicella, S., Forcina, N., Cateruccia, M., Damasio, M. B., Labianca, Tags: Neuromuscular Source Type: research

Incidence and prevalence of paediatric-onset multiple sclerosis in two Canadian provinces: a population-based study representing over half of Canadas population
Conclusions Canada has one of the highest rates of PoMS globally, and the prevalence, but not incidence, has increased over time. Allocation of resources to support the growing youth population with MS should be a priority. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Yusuf, F. L. A., Asaf, A., Marrie, R. A., Li, P., McKay, K., Zhao, Y., Zhu, F., Maxwell, C., Tremlett, H. Tags: Open access Multiple sclerosis Source Type: research

Effect of long-term Tai Chi training on Parkinsons disease: a 3.5-year follow-up cohort study
Conclusion Tai Chi training has a long-term beneficial effect on PD, with an improvement in motor and non-motor symptoms and reduced complications. Trial registration number NCT05447975. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Li, G., Huang, P., Cui, S., He, Y., Tan, Y., Chen, S. Tags: JNNP Patients' choice, Open access, Press releases Movement disorders Source Type: research

Cognitive and psychiatric outcomes in the GALAXY trial: effect of anaesthesia in deep brain stimulation
Conclusions This study suggests that the choice between awake and asleep STN DBS does not affect cognitive, mood and behavioural adverse effects, despite a minor difference in memory. STN DBS has a beneficial effect on quality of life, mood and anxiety symptoms. Trial registration number NTR5809. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Holewijn, R. A., Zoon, T. J. C., Verbaan, D., Bergfeld, I. O., Verwijk, E., Geurtsen, G. J., van Rooijen, G., van den Munckhof, P., Bot, M., Denys, D. A. J. P., De Bie, R. M. A., Schuurman, P. R. Tags: Movement disorders Source Type: research

Unilateral focused ultrasound subthalamotomy in early Parkinsons disease: a pilot study
Conclusion Unilateral FUS-STN may be safe and effective to treat motor manifestations in patients with early PD. A larger confirmatory trial is warranted. Trial registration number NCT04692116 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Martinez Fernandez, R., Natera Villalba, E., Rodriguez-Rojas, R., del Alamo, M., Pineda-Pardo, J. A., Obeso, I., Mata-Marin, D., Guida, P., Jimenez-Castellanos, T., Perez-Bueno, D., Duque, A., Manez Miro, J. U., Gasca-Salas, C., Matarazzo, M., Obeso, J. A Tags: Movement disorders Source Type: research

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Conclusions Specific gain-of-function mutations in both core subunits affect the homoeostatic control of SPT. SPTLC2 represents a new Mendelian ALS gene, highlighting a key role of dysregulated sphingolipid synthesis in the pathogenesis of juvenile ALS. Given the direct interaction of SPTLC1 and SPTLC2, this knowledge might open new therapeutic avenues for motor neuron diseases. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Dohrn, M. F., Beijer, D., Lone, M. A., Bayraktar, E., Oflazer, P., Orbach, R., Donkervoort, S., Foley, A. R., Rose, A., Lyons, M., Louie, R. J., Gable, K., Dunn, T., Chen, S., Danzi, M. C., Synofzik, M., Bönnemann, C. G., Nazlı Basak, A., H Tags: Neurogenetics Source Type: research

Genetics, cell biology and a novel mechanism for ALS
Disrupted homeostasis in sphingolipid synthesis causes severe ALS in young children Syeda and colleagues used an elegant combination of genetics, meticulous clinical evaluation and cell biology to demonstrate that disrupting serine palmitoyl transferase (SPT) can cause amyotrophic lateral sclerosis (ALS) in very young children.1 SPT is the initial rate-limiting step in sphingolipid biosynthesis, joining serine and palmitoyl CoA in a decarboxylating condensation reaction that ultimately creates ceramide, sphingosine, glycosphingolipids and gangliosides.2 SPT resides in the endoplasmic reticulum membrane as a dimer of two su...
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Shy, M. E. Tags: Open access Editorial commentaries Source Type: research