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This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Erdem Ozdamar, Koc, Durmus Tekce, Kotan, Ekmekci, Sengun, Yuceyar and Uluc.)

Vascular compression of neural tissue causing neurological symptoms is a wellknown phenomenon. This is commonly seen in trigeminal neuralgia and, less commonly, in hemifacial spasm by small arteries, which can be treated by microvascular decompression. Rarely, larger arteries, such as the vertebral arteries, may compress the brainstem. This can lead to symptoms of pontine or medullary distress like hemiparesis, dysphagia, or respiratory distress. This is treated by macrovascular decompression. Due to the rare and heterogenous nature of this disease, there is no standardized approach. We describe a novel technique whereby the vertebrobasilar system is mobilized anterolaterally towards the occipital condyle with a sling to decompress the brainstem.
We report two cases of vertebrobasilar dolichoectasia causing brainstem compression. A carotid patch graft sling with anterolateral mobilization to the occipital condyle is described as a surgical nuance to macrovascular decompressive surgery. Briefly, the vertebral artery was identified and dissected away from the brainstem and the bulbar cranial nerves. Bovine pericardium graft was used to create a sling around the artery by suturing the two ends together. The sling was then fixed either to the occipital condyle using cranial plating screws or suturing to the dura of the occipital condyle.
A novel surgical technique for management of vertebrobasilar dolichoectasia causing brainstem compression with progressive neurological deterioration is reported. Anatomical location and the offending vessel should guide neurosurgeons to select the best surgical option to achieve complete decompression of the involved neural structures.

Background: Intra-arterial administration of chemotherapy with or without osmotic blood-brain barrier disruption enhances delivery of therapeutic agents to brain tumors. The aim of this study is to evaluate the safety of these procedures., Methods: Retrospectively collected data from a prospective database of consecutive patients with primary and metastatic brain tumors who received intra-arterial chemotherapy without osmotic blood-brain barrier disruption (IA) or intra-arterial chemotherapy with osmotic blood-brain barrier disruption (IA/OBBBD) at Oregon Health and Science University (OHSU) between December 1997 and November 2018 is reported. Chemotherapy-related complications are detailed per Common Terminology Criteria for Adverse Events (CTCAE) guidelines. Procedure-related complications are grouped as major and minor., Results: 4939 procedures (1102 IA; 3837 IA/OBBBD) were performed on 436 patients with various pathologies (primary central nervous system lymphoma [26.4%], glioblastoma [18.1%], and oligodendroglioma [14.7%]). Major procedure-related complications (IA: 12, 1%; IA/OBBBD: 27, 0.7%; P = .292) occurred in 39 procedures including 3 arterial dissections requiring intervention, 21 symptomatic strokes, 3 myocardial infarctions, 6 cervical cord injuries, and 6 deaths within 3 days. Minor procedure-related complications occurred in 330 procedures (IA: 41, 3.7%; IA/OBBBD: 289, 7.5%; P = .001). Chemotherapy-related complications with a CTCAE attribution and grade higher than 3 was seen in 359 (82.3%) patients., Conclusions: We provide safety and tolerability data from the largest cohort of consecutive patients who received IA or IA/OBBBD. Our data demonstrate that IA or IA/OBBBD safely enhance drug delivery to brain tumors and brain around the tumor., (© The Author(s) 2022. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.)

Background: Cerebral angiography including internal and external carotid artery injections is crucial in young patients with a spontaneous subdural hematoma., Case Description: We present the first reported case of an accessory meningeal artery aneurysm in a 46-year-old male with a history of hypertension that led to a spontaneous nontraumatic acute subdural hematoma. A PubMed review of the literature was performed using a keyword search to identify cases examining nontraumatic spontaneous intracranial hematomas related to meningeal artery aneurysms. The literature review summarizes all published reports of middle meningeal artery aneurysms resulting in nontraumatic acute intracranial bleeds. The patient underwent successful coiling of the accessory meningeal artery., Conclusion: We propose endovascular treatment for accessory meningeal artery aneurysms and emphasize the utility of angiography of internal and external carotid arteries in a patient with an unexplained intracranial hematoma., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Surgical Neurology International.)

Microvascular decompression (MVD) is a common surgical technique used for treatment of trigeminal neuralgia (TN) caused by direct vascular compression of the nerve at the brainstem entry zone (BEZ). Here we report a case of a patient (status postcraniotomy for microsurgical clip obliteration of a ruptured mid-basilar artery aneurysm) who developed right-sided TN 6 years after the procedure. During MVD surgery the clip head was found to be compressing the trigeminal nerve at the BEZ, causing Type 1 TN in V3 distribution. This is consistent with the commonly held theory that a pulsatile stimulus is needed to cause TN. To our knowledge there are no previous reports in the literature of an instrument causing TN.

Aneurysms of the distal anterior cerebral artery (dACA) are rare, consisting only 2-6% of all intracranial aneurysms. dACA aneurysms are often associated with anomalies such as azygous, bihemispheric and triplication of ACA. Among these anomalies accessory anterior cerebral artery (accACA) is an anatomical variant found in 3.3% to 15% of the population. Here we report a case of a 60-year-old female who presented with a Hunt and Hess grade II, Fisher grade III subarachnoid hemorrhage secondary to a ruptured saccular aneurysm originating from the pericallosal-callosomarginal artery bifurcation at the A3 segment of the accessory ACA and underwent an uncomplicated microsurgical clipping.

BACKGROUND The purpose of this study was to present the clinical results of our retrospective series of carpal tunnel release (CTR) operations. For these operations we used a unique type of incision, for the first time, for treatment of carpal tunnel syndrome (CTS) consisting of a 1-cm semi-vertical (SV) incision made into the wrist crease for macroscopic open CTR. MATERIAL AND METHODS This retrospective study included 114 patients (101 females and 13 males) with CTR who were operated upon in our neurosurgery clinic between December 2010 and June 2015. Patient ages ranged from 35 to 83 years (mean 55.05±12.04 years). In total, 127 hands (73 right and 54 left) were operated upon using the SV skin incision technique. After an average follow-up of 18 months (ranging from 6 to 30 months), clinical and electrophysiological (EP) evaluations were performed. RESULTS A review of the English language literature published since 1957, when Phalen first popularised the diagnosis and treatment of this disease, determined that no previous reports of the mini-open incision technique as described in our study have been published. In our retrospective patient case review, we found that after operations using the SV incision technique, statistically significant differences were detected in electromyography (EMG) improvements (p<0.01). In addition, patients who showed improvement in EMG studies (n=90) were satisfied with the result of their surgery. CONCLUSIONS Our study demonstrated that 1-cm skin SV incision was a cosmetically satisfying, fast, and safe approach to CTR that was not only clinically effective but also electrophysiologically effective.

Background and Purpose: We compared the motor-unit number estimation (MUNE) findings in patients who presented with signs and/or findings associated with carpal tunnel syndrome (CTS) and healthy controls, with the aim of determining if motor-unit loss occurs during the clinically silent period and if there is a correlation between clinical and MUNE findings in CTS patients., Methods: The study investigated 60 hands of 35 patients with clinical CTS and 60 hands of 34 healthy controls. Routine median and ulnar nerve conduction studies and MUNE analysis according to the multipoint stimulation method were performed., Results: The most common electrophysiological abnormality was reduced conduction velocity in the median sensory nerve (100% of the hands). The MUNE value was significantly lower for the patient group than for the control group (p=0.0001). ROC analysis showed that a MUNE value of 121 was the optimal cutoff for differentiating between patients and controls, with a sensitivity of 63.3% and a specificity of 68.3%. MUNE values were lower in patients with complaints of numbness, pain, and weakness in the median nerve territory (p<0.05, for all comparisons), and lower in patients with hypoesthesia than in patients with normal neurological findings (p=0.023)., Conclusions: The MUNE technique is sensitive in detecting motor nerve involvement in CTS patients who present with sensorial findings, and it may be useful in detecting the loss of motor units during the early stages of CTS. Larger-scale prospective clinical trials assessing the effect of early intervention on the outcome of these patients would help in confirming the possible benefit of detecting subclinical motor-unit loss in CTS.

Aim: We have applied diffusion tensor imaging (DTI) to interrogate microstructural changes in white matter integrity in a widely used middle cerebral artery occlusion (MCAO) model of cerebral ischemia., Material and Methods: We performed ex vivo DTI 35 days after 60 minutes transient focal ischemia in male spontaneously hypertensive rats and generated fractional anisotropy (FA), mean, axial and radial diffusivity maps. Regions of interest corresponding to external capsule (EC), corpus callosum (CC) and internal capsule (IC) were compared among sham and stroked rats. We compared tractographic projections of white matter fiber patterns and examined white matter integrity by Luxol fast blue histological analysis. We also determined infarct lesion volumes at 24 hours post-ischemia by T2-weighted magnetic resonance imaging (MRI) or at 35 days by histological staining with cresyl violet., Results: We found alterations in EC and IC, but not CC, as represented by decreased FA and increased mean, axial and radial diffusivities. The size of the ischemic lesion detected subacutely by T2-weighted MRI or at 35 days by histological staining correlated with the decline in FA in the affected structures. Tractography revealed disruption of fiber trajectories through the EC and reorientation of fibers within the caudate/putamen of rats subjected to MCAO. Similarly, loss of white matter integrity in the EC and increased white matter density in the caudate/putamen along the infarct border zone was evidenced by Luxol fast blue staining., Conclusion: Diffusion tensor imaging therefore allows for monitoring of white matter injury and reorganization in hypertensive rats.

The supracerebellar transtentorial approach via a suboccipital craniotomy provides a corridor to reach lesions of the tentorial incisura and supratentorial lesions of the posterior medial basal temporal lobe, such as lesions of the posterior parahippocampal and fusiform gyri. The supracerebellar transtentorial approach obviates the need for either retraction of eloquent cortex or a transcortical route to reach lesions in this region. We present three cases that demonstrate the utility of this approach: a left-sided tentorial meningioma with superior projection, a left-sided posterior parahippocampal cavernous malformation, and a left-sided posterior parahippocampal grade 2 oligodendroglioma. The video can be found here: https://youtu.be/OLnzUGZfUqk .

Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.

Thrombosed giant intracranial aneurysms usually present with symptoms and signs from their mass effect. Although multiple treatment options are available, direct clip reconstruction with thromboendarterectomy remains the gold standard. Here we present a 66-year-old man with seizure, aphasia and hemiparesis. Work-up revealed a giant partially thrombosed aneurysm of the internal carotid artery bifurcation with surrounding vasogenic edema. He underwent clip reconstruction of the aneurysm via a cranio-orbital approach. Although we prepared for bypass with the radial artery and/or the superficial temporal artery, we were able to clip-reconstruct the aneurysm without bypass. The patient improved upon his pre-morbid state after surgery and made an excellent recovery. The video can be found here: http://youtu.be/P&#95;10hRQFuPo .

Background and Study Aim To enhance the visualization of the intracranial vasculature of cadavers under gross examination with a combination of imaging modalities. Material and Methods A total of 20 cadaver heads were used to test two different perfusion techniques. First, fixed cadaver heads were perfused with water; second, fresh cadavers were perfused with saline and 10% formalin. Subsequently, brains were removed and fixed. The compounds used were silicone rubber, silicone rubber mixed with powdered barium sulfate, and silicone rubber mixed with tantalum dioxide prepared by the first perfusion technique and gelatin mixed with liquid barium prepared with the second technique. Conventional X-ray imaging, computed tomography (CT), dynamic computed tomography (dCT), and postprocessing three-dimensional (3D) images were used to evaluate all the heads. Results Gelatinized barium was better visualized when compared with tantalum dioxide in conventional X-ray images. The blood vessels injected with either tantalum dioxide or gelatinized barium demonstrated a higher enhancement than the surrounding soft tissues with CT or dCT. The quality of the 3D reconstruction of the intracranial vasculature was significantly better in the CT images obtained from the gelatinized barium group. Conclusions Radiologic examinations of the heads injected with gelatinized barium facilitates the 3D understanding of cerebrovascular anatomy as an important tool for neuroanatomy training.

Hypoxia ischemia (HI)-related brain injury is the major cause of long-term morbidity in neonates. One characteristic hallmark of neonatal HI is the development of reactive astrogliosis in the hippocampus. However, the impact of reactive astrogliosis in hippocampal damage after neonatal HI is not fully understood. In the current study, we investigated the role of Na(+)/H(+) exchanger isoform 1 (NHE1) protein in mouse reactive hippocampal astrocyte function in an in vitro ischemia model (oxygen/glucose deprivation and reoxygenation, OGD/REOX). 2 h OGD significantly increased NHE1 protein expression and NHE1-mediated H(+) efflux in hippocampal astrocytes. NHE1 activity remained stimulated during 1-5 h REOX and returned to the basal level at 24 h REOX. NHE1 activation in hippocampal astrocytes resulted in intracellular Na(+) and Ca(2+) overload. The latter was mediated by reversal of Na(+)/Ca(2+) exchange. Hippocampal astrocytes also exhibited a robust release of gliotransmitters (glutamate and pro-inflammatory cytokines IL-6 and TNFα) during 1-24 h REOX. Interestingly, inhibition of NHE1 activity with its potent inhibitor HOE 642 not only reduced Na(+) overload but also gliotransmitter release from hippocampal astrocytes. The noncompetitive excitatory amino acid transporter inhibitor TBOA showed a similar effect on blocking the glutamate release. Taken together, we concluded that NHE1 plays an essential role in maintaining H(+) homeostasis in hippocampal astrocytes. Over-stimulation of NHE1 activity following in vitro ischemia disrupts Na(+) and Ca(2+) homeostasis, which reduces Na(+)-dependent glutamate uptake and promotes release of glutamate and cytokines from reactive astrocytes. Therefore, blocking sustained NHE1 activation in reactive astrocytes may provide neuroprotection following HI.

Aim: The aim of this study was to better define the microsurgical anatomy of the supra/parasellar region and describe variations of the anterior clinoid process (ACP)., Material and Methods: Fifteen formalin-fixed cadaver heads and 25 dry skulls were used to define the microsurgical anatomy of the ACP and related structures. The presence of the caroticoclinoid foramen (CaCF) as well as other relevant measurements were all noted. Radiological examination of the CaCF was also demonstrated on dry skulls., Results: Interosseous bridges, which form between the anterior and middle clinoid processes or connect all three (anterior, middle and posterior) clinoid processes, were found in 30% of the specimens. The average basal width, length and thickness of the ACP were 7.3 mm, 9.7 mm and 5.4 mm, respectively. Length of the optic nerve (ON) up to the falciform ligament (FL) was 10.9 mm; length of the ON under the FL was 2.7 mm; length of ON after removal of the ACP and unroofing the optic canal was 21.1 mm., Conclusion: This study contributes to the relationship of important vascular, neural, bone and dural layers of this region and also demonstrates the variations of ACP by means of microsurgical dissections and radiological examinations.

Objective: To investigate the F wave parameters (F duration, F minimum latency, F maximum latency, F mean latency, F chronodispersion, and F persistence) of the tibial nerve with unilateral S1 radiculopathy. We evaluated the differences of these parameters between the affected and unaffected sides and also with the control group., Methods: The study was performed from September 2007 to January 2008 in the Electrophysiology Laboratory of Marmara University Medical Faculty, Istanbul, Turkey. Bilateral tibial F waves were obtained from 20 normal control subjects (control group) and 20 patients with unilateral S1 radiculopathy (patient group). Minimum, maximum, and mean F latency values were corrected by the subject`s height (F min/H, F max/H, F mean/H). Needle electromyography was performed in the patient group. The patients with a history of diabetes, alcoholism, or other abnormality known to affect peripheral nerves were excluded., Results: In the control group, no significant differences were found in any of the F-wave parameters between the 2 sides. In the patient group, there were significant prolongations of F duration, F min/H, F max/H, F mean/H, and F chronodispersion on the lesion side. Patients` F durations of the affected and unaffected side were significantly longer than the control group. The F chronodispersion also showed significant prolongation on the affected side in the patient group compared with the control group. Among 20 patients, 15 had evidence of denervation or polyphasic potentials on needle electromyography., Conclusion: The F wave study can be clinically useful in the evaluation of S1 radiculopathies, especially in patients with mild and early stage of the disease. Both F duration and F chronodispersion have a higher diagnostic value as compared to F min in the diagnosis of lumbosacral radiculopathy, especially in cases with normal findings on needle electromyography.

Aim: The foramen magnum (FM) is a unique and complex anatomical region. The occipital condyle (OC) and jugular tubercle (JT) are the main bony structures which obscure the anterolaterally situated lesions of the FM.The aim of this study was to revisit the anatomy of the FM region and assess variations of the surrounding structures., Material and Methods: Observations, on thirty dry skulls (dried specimens, 60 sides) and ten formalin-fixed cadaveric heads with perfused vessels, were carried out to define the microsurgical anatomy of the FM region. Morphometric analysis and variations of the FM, OC, JT and hypoglossal canal (HC) were noted. Radiological assessment (3D-computed tomography) of the OC, JT, HC were also conducted on dry skulls., Results: The short and long OC were demonstrated in 5% and 33% of the specimens, respectively. Flat formation of the JT was determined in 10% and tall JT was found in 23% of the specimens. The comparison of the anatomical measurements and the correspondent radiological mean values did not achieve statistical significance., Conclusion: The OC and JT are the main bony prominences obstructing the anterolateral surface of the brainstem. Neurosurgeons should be familiar with variations of the structures surrounding the FM in order to perform the safest and widest exposure possible.

Transcranial Doppler sonography (TCD) is a non-invasive diagnostic tool enabling evaluation of blood flow characteristics of basal intracerebral vessels via thin calvarian regions. Several factors may affect the normal values of cerebral hemodynamic parameters, and standard reference values for each laboratory are needed for precise interpretation of the results. The aims of this study were to determine normal values of flow velocities of basal cerebral arteries of our TCD laboratory, and to study the influence of age and gender on normal values. We studied 63 healthy volunteers (30 male and 33 females; age range, 5 - 69 years old) with TCD with a 2-MHz transcranial probe. The subjects were divided into 7 age groups: 5-10 years, 11-20 years, 21-30 years, 31-40 years, 41-50 years, 51-60 years and > 60 years. Mean velocity (V mean), peak systolic velocity (PSV), and end-diastolic velocities (EDV) were determined in middle, anterior and posterior cerebral arteries. No significant gender difference was found. However, there was a decrease in blood flow velocities in all vessels with advancing age, which was significant when subjects older than 40 years and < or = 40 years old were compared. V mean, PSV and EDV values were highest in the age group of 5 - 10 years old and lowest in volunteers older than the age of 60 (p < 0.05). As a conclusion, flow velocities in basal cerebral arteries range widely and are significantly age-related. Age matching of TCD data is a requirement for clinically relevant conclusions.

Epileptic nystagmus (EN) is a rare form of rhythmic eye oscillations occurring during seizure activity. Not only convulsive states, but also nonconvulsive status may represent with EN and this phenomenon may be the only motor manifestation of seizure activity. Epileptic activation of a cortical saccade region may be distinguished from activation of a cortical pursuit region clinically as activation of pursuit regions results in nystagmus slow phases that bring the eyes across the midline. Horizontal EN results most commonly from seizure activity involving the occipital cortex. In this report, horizontal EN in a patient with nonconvulsive status epilepticus (NCSE) is described with clinical, radiological and electrophysiological findings that occur probably due to posterior leukoencephalopathy syndrome.

The aim of this study was to compare out of camera view seizure occurrence rates between psychogenic non-epileptic and epileptic seizures during long-term video-EEG monitoring. From 1996 to 2001, 208 adult patients were monitored in 212 sessions, and 196 patients were included in the study. Depending on video-EEG recordings and witnessed accounts, 18 of the patients had no seizures recorded, 160 had epileptic seizures and 18 had psychogenic non-epileptic seizures, four of whom had psychogenic non-epileptic seizures plus true epileptic seizures. Six hundred and ninety two seizures were recorded; 634 of them were epileptic seizures and 58 of them, psychogenic non-epileptic ones. Out of camera attack occurrence was significantly higher in patients with psychogenic non-epileptic attacks compared with epileptic ones (chi-square with Yates correction = 19.75, df = 1, P< 0.001).