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Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability
Discussion Orthoptic measurements can be used to diagnose MG by quantifying EOM weakness and fatiguability. Drift during persistent gaze on a Hess chart is specific for MG and could be used for diagnostic purposes. The Hess chart examination is widely available, inexpensive and fast. Moreover, orthoptic measurements may be a clinically relevant outcome measure for clinical trials. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Keene, K. R., de Nie, J. M., Brink, M. J., Notting, I. C., Verschuuren, J. J. G. M., Kan, H. E., Beenakker, J.-W. M., Tannemaat, M. R. Tags: Neuromuscular Source Type: research

Role of small acute hyperintense lesions in long-term progression of cerebral small vessel disease and clinical outcome: a 14-year follow-up study
Conclusion Presence of a DWI+lesion in patients with SVD is associated with greater radiological progression of SVD and cognitive decline compared with patients without DWI+lesions. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Verburgt, E., Janssen, E., Jacob, M. A., Cai, M., ter Telgte, A., Wiegertjes, K., Kessels, R. P. C., Norris, D. G., Marques, J., Duering, M., Tuladhar, A. M., De Leeuw, F.-E. Tags: Cerebrovascular disease Source Type: research

Relationship between intrinsic network connectivity and psychiatric symptom severity in functional seizures
Conclusions These findings indicate the presence of aberrant connectivity in FS and extend the biopsychosocial network model by demonstrating that common aetiology is linked to both FS and comorbidities, but the overlap in affected networks varies by comorbid symptoms. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Goodman, A. M., Kakulamarri, P., Nenert, R., Allendorfer, J. B., Philip, N. S., Correia, S., LaFrance, W. C., Szaflarski, J. P. Tags: Neuropsychiatry Source Type: research

Impairments to executive function in emerging adults with Huntington disease
Conclusions This work provides strong evidence that impairments in executive function occur as early as the second decade of life, well before anticipated motor onset. Future investigations should delineate whether these impairments in executive function are due to abnormalities in neurodevelopment or early sequelae of a neurodegenerative process. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Pfalzer, A. C., Watson, K. H., Ciriegio, A. E., Hale, L., Diehl, S., McDonell, K. E., Vnencak-Jones, C., Huitz, E., Snow, A., Roth, M. C., Guthrie, C. S., Riordan, H., Long, J. D., Compas, B. E., Claassen, D. O. Tags: Movement disorders Source Type: research

Evaluation of the impact of CSF prion RT-QuIC and amended criteria on the clinical diagnosis of Creutzfeldt-Jakob disease: a 10-year study in Italy
Conclusions CSF RT-QuIC is highly sensitive and specific for diagnosing CJD in vitam. The Q-CM criteria provide a high diagnostic value for CJD. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Mastrangelo, A., Mammana, A., Baiardi, S., Tiple, D., Colaizzo, E., Rossi, M., Vaianella, L., Polischi, B., Equestre, M., Poleggi, A., Capellari, S., Ladogana, A., Parchi, P. Tags: Editor's choice Neurodegeneration Source Type: research

Clinical utility of cerebrospinal fluid biomarkers in the evaluation of cognitive impairment: a systematic review and meta-analysis
Conclusions CSF biomarkers can be a helpful additional diagnostic tool for clinicians assessing patients with cognitive impairment. In particular, CSF biomarkers consistently improved clinicians’ confidence in diagnosing AD and influenced on diagnostic change and patient management. Further research is needed to study the clinical utility of blood-based biomarkers in the clinical setting. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Hazan, J., Wing, M., Liu, K. Y., Reeves, S., Howard, R. Tags: JNNP Patients' choice Neurodegeneration Source Type: research

MOG antibody-associated encephalitis in adult: clinical phenotypes and outcomes
Conclusions Outcomes are different according to the three phenotypes in MOGAE. Short immunotherapy maintenance is associated with relapse, and brain atrophy was associated with poor outcomes. Patients with dual antibodies of NMDAR and MOG have a high relapse rate. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Lee, W.-J., Kwon, Y. N., Kim, B., Moon, J., Park, K.-I., Chu, K., Sung, J.-J., Lee, S. K., Kim, S.-M., Lee, S.-T. Tags: Neuro-inflammation Source Type: research

Monoaminergic network abnormalities: a marker for multiple sclerosis-related fatigue and depression
Conclusions Patients with MS present diffuse dysregulation in the monoaminergic networks. Specific alterations in these networks were associated with fatigue and depression, providing a pathological marker for these bothersome symptoms and putative targets for their treatment. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Carotenuto, A., Valsasina, P., Preziosa, P., Mistri, D., Filippi, M., Rocca, M. A. Tags: Multiple sclerosis Source Type: research

Noradrenergic therapies for apathy in Alzheimers disease?
Apathy is an important neuropsychiatric syndrome across many neurodegenerative disorders. In Alzheimer’s disease (AD), where it may affect nearly half of all patients, it is associated with poor prognosis, accelerated functional decline and high caregiver burden.1 Symptomatic improvement of apathy might therefore have a significant impact on both patients and their families. However, there is no licensed therapy, although several studies particularly in Parkinson’s disease (PD) have pointed to a potential role for dopaminergic drugs. Dopamine may operate, at least in part, by increasing incentivisation by rewar...
Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2023 Category: Neurosurgery Authors: Husain, M. Tags: Open access Editorial commentaries Source Type: research

Plasma GFAP in presymptomatic and symptomatic familial Alzheimers disease: a longitudinal cohort study
We examined whether plasma GFAP concentration is altered in mutation carriers compared with non-carriers, and the timing of presymptomatic change. Methods We studied 69 participants within University College London’s longitudinal study of FAD between 2010 and 2019; described previously.3 Eligibility was either (1) a clinical diagnosis of FAD... (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: O'Connor, A., Abel, E., Benedet, A. L., Poole, T., Ashton, N., Weston, P. S. J., Heslegrave, A. J., Ryan, N., Barker, S., Polke, J. M., Blennow, K., Zetterberg, H., Fox, N. C. Tags: PostScript Source Type: research

Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy
Introduction Recently biallelic mutations in the sorbitol dehydrogenase (SORD) gene were reported as representing a frequency of up to around 10% in undiagnosed cases of Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN).1 SORD is an enzyme in the two-step polyol pathway for the conversion of glucose to fructose with deficiencies in SORD shifting the balance towards increased sorbitol levels.1 Cortese et al1 have demonstrated in preclinical studies that using aldose reductase inhibitors led to a reduction of sorbitol levels in patient-derived fibroblasts. SORD neuropathy may therefore be a t...
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: O'Donnell, L. F., Cortese, A., Rossor, A. M., Laura, M., Blake, J., Skorupinska, M., Lunn, M. P., Thornton, J. S., Curro, R., Morrow, J. M., Reilly, M. M. Tags: PostScript Source Type: research

Impact of tDCS on persistent COVID-19 olfactory dysfunction: a double-blind sham-controlled study
Introduction Loss of smell is a characteristic finding of COVID-19. It may outpersist the resolution of the disease, though recovery varies significantly, ranging from 15 to 180 days.1 Studies have purported central nervous system involvement in COVID-19 anosmia, mostly in the orbitofrontal cortex (OFC), the neural substrate for conscious olfactory perception.2 Given the high prevalence of COVID-19, an enormous number of patients worldwide are at risk of long-term loss of smell. Olfaction is essential for detecting environmental hazards and for enjoying food. Smell loss can cause mood disorders, even suicidal ideation.3 Tr...
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: Vestito, L., Mori, L., Trompetto, C., Bagnasco, D., Canevari, R. F., Ponzano, M., Subbrero, D., Cecchella, E., Barbara, C., Clavario, P., Bandini, F. Tags: COVID-19 PostScript Source Type: research

Cerebrospinal fluid {beta}-synuclein as a synaptic biomarker for preclinical Alzheimers disease
Discussion CSF β-syn increases in the whole AD continuum since the preclinical stage and represents a promising biomarker of synaptic damage in AD. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: Barba, L., Abu Rumeileh, S., Bellomo, G., Paolini Paoletti, F., Halbgebauer, S., Oeckl, P., Steinacker, P., Massa, F., Gaetani, L., Parnetti, L., Otto, M. Tags: Neurodegeneration Source Type: research

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease
Conclusions More than 90% of mgCSVDs were diagnosed by screening for NOTCH3, HTRA1 and ABCC6. The target sequences for these three genes may efficiently diagnose mgCSVD in Japanese patients. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: Uemura, M., Hatano, Y., Nozaki, H., Ando, S., Kondo, H., Hanazono, A., Iwanaga, A., Murota, H., Osakada, Y., Osaki, M., Kanazawa, M., Kanai, M., Shibata, Y., Saika, R., Miyatake, T., Aizawa, H., Ikeuchi, T., Tomimoto, H., Mizuta, I., Mizuno, T., Ishihara, Tags: Open access Cerebrovascular disease Source Type: research

Circadian rhythm of ischaemic core progression in human stroke
Discussion These results suggest that human infarct progression varies across the 24-hour cycle with potential implications for the design and interpretation of neuroprotection trials. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - December 14, 2022 Category: Neurosurgery Authors: Reidler, P., Brehm, A., Sporns, P. B., Burbano, V. G., Stueckelschweiger, L., Broocks, G., Liebig, T., Psychogios, M.-N., Ricke, J., Dimitriadis, K., Dichgans, M., Kunz, W. G., Tiedt, S. Tags: Editor's choice Cerebrovascular disease Source Type: research