Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2023
ReviewShort-lasting unilateral neuralgiform headache attacks (SUNCT/SUNA): a narrative review of interventional therapies.
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache with autonomic symptoms (SUNA) are disabling primary headache disorders. The advent of advanced imaging technologies and surgical techniques has translated to a growing arsenal of interventional therapies capable of treating headache disorders. This literature review sheds light on the current evidence available for interventional therapies in medically intractable SUNCT/SUNA. ⋯ A significant proportion of SUNCT/SUNA patients remain refractory to medical therapy (45%-55%). This review discusses existing literature on interventional approaches, including neuromodulation, radiofrequency ablation, gamma knife radiosurgery and MVD. The outcomes are promising, yet limited data exist, underscoring the need for further research to develop a robust surgical management algorithm.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2023
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
This study aimed to clarify the frequency and clinical features of monogenic cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in Japan. ⋯ 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.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2023
Circadian rhythm of ischaemic core progression in human stroke.
Experimental stroke studies suggest an influence of the time of day of stroke onset on infarct progression. Whether this holds true after human stroke is unknown, but would have implications for the design of randomised controlled trials, especially those on neuroprotection. ⋯ These results suggest that human infarct progression varies across the 24-hour cycle with potential implications for the design and interpretation of neuroprotection trials.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2022
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients. ⋯ Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2022
Randomized Controlled TrialEfficacy of pulse intravenous methylprednisolone in epileptic encephalopathy: a randomised controlled trial.
High-level evidence for using steroids in epileptic encephalopathy (EE), other than West syndrome (WS), is lacking. This study investigated the efficacy and safety of pulse intravenous methylprednisolone (IVMP) in EE other than WS. ⋯ Three-month pulse IVMP therapy showed significant improvement in seizure frequency, EEG parameters and VSMS scores, with no steroid-related serious adverse effects. It can be considered as a safe and effective add on treatment in children with EE other than WS.