Oculomotor Disturbances Research Articles

Navigating Simulator Sickness: The Effect of Flight Maneuvers in Fixed-Base Flight Simulators

Flight simulator sickness (SS) is a well-known phenomenon in aviation training, which can impact the safety and effectiveness of pilot training programs. Identifying and characterizing which flight maneuvers result in increased SS symptoms could help instructors tailor training to increase pilot retention and potentially improve training. The aim of this study was to explore the impact of different flight maneuvers on SS in a fixed-base simulator (ALSIM AL250). Our results indicate that a flight session with more intense flight maneuvers (landing with wind and taxiing) resulted in an increase in sickness symptoms (Total Sickness [ p = .012] and Oculomotor Disturbance [ p = 0.035] of the SSQ) compared to no changes after a session with less intense flight maneuvers (steep turn). These results demonstrate a need to explore which flight maneuvers are more likely to result in increased sickness symptoms and its effects on training and retention of student pilots.

A acute pontine infarction with one-and-a-half syndrome as the manifestation: A case report.

Sudden ocular dyskinesia is usually associated with ophthalmic diseases and rarely with cerebrovascular diseases. This is a rare case of a patient with a sudden onset of ocular dyskinesia due to occlusion of the anterior inferior cerebellar artery and the spiral modiolar artery. This article describes eye movement disorders associated with cerebrovascular disease, aiming to improve our understanding of cerebrovascular diseases and improve the ability of early diagnosis and differential diagnosis. A 52-year-old man presented with acute pontine cerebral infarction 2 days before presentation. The main symptoms were the inability to adduct and abduct the left eyeball, the ability to abduct but not adduct the right eyeball, and horizontal nystagmus during abduction. Cranial computed tomography in our emergency department suggested cerebral infarction, and magnetic resonance imaging examination after admission confirmed the diagnosis of acute pontine cerebral infarction. This patient was ultimately diagnosed with acute pontine cerebral infarction. He received aspirin, clopidogrel, and butylphthalide, as well as acupuncture and Chinese herbal medicine. After 10 days of treatment, the patient's paralysis of the eye muscles improved significantly. Eye movement disorders are sometimes an early warning sign of impending vertebrobasilar ischemic stroke. Patients with acute ischemic stroke who have early detection of oculomotor disturbances should be promptly imaged, as missed diagnosis may lead to serious consequences or even death. It provided us with a new diagnostic idea.

Negative features of sporadic amyotrophic lateral sclerosis: Motor neurons of Onuf's nucleus survive in ADAR2-conditional knockout mice

Patients with amyotrophic lateral sclerosis (ALS) do not develop oculomotor disturbances and vesicorectal dysfunction until end-stage disease owing to the survival of certain motor neurons (MNs), including oculomotor neurons and MNs within Onuf's nucleus. In sporadic ALS, adenosine deaminase acting on RNA 2 (ADAR2)-mediated editing of GluA2 mRNA at the Q/R site is compromised in lower MNs. We previously developed genetically modified mice with a conditional knockout of ADAR2 in cholinergic neurons (ADAR2flox/flox/VAChT-Cre, Fast; AR2). These mice displayed slow and progressive lower motor neuron death with TAR DNA-binding protein 43 (TDP-43) pathology, attributable to insufficient editing at the GluA2 Q/R site due to ADAR2 deficiency. MN death was more common in fast-fatigable MNs owing to differential vulnerability under conditions of ADAR2 deficiency. Although facial and hypoglossal nerves were impaired in AR2 mice, cell death did not occur within the oculomotor nerve nucleus, as observed in patients with sporadic ALS. Since the basis for avoiding cystorectal damage in ALS is unknown, we compared the features of Onuf's nucleus MNs in 12-month-old AR2 mice with those in age-matched wild-type mice. Although the number of MNs was not significantly lower in AR2 mice, the neurons exhibited a shrunken morphology and TDP-43 pathology. Onuf's nucleus MNs could survive in an ADAR2-deficient state and mainly included fast fatigue-resistant (FR) and slow (S) MNs. In summary, FR and S MNs show increased resilience to ADAR2 deficiency, potentially participating in an important neuronal death avoidance mechanism in ALS.

Ocular disorders in Parkinson’s disease: A review

Parkinson’s disease (PD) is a common degenerative disorder characterized by decreased dopamine levels from damage to the substantia nigra causing classic motor deficits. Several ocular deficits have been recognized in association with PD such as oculomotor disturbances and diplopia, glaucoma and visual field loss, dry eye disease, color and contrast impairment, visual hallucinations, and visuospatial and visuoperceptual impairments. These disorders remain underreported, underrecognized, and poorly understood. Patients with PD are largely dependent on visual cues for compensating the motor deficits. Hence, early recognition and timely management of the above ocular disorders can lead to greater patient safety, independence, and a better quality of life.

HOW DOES MENTAL DISTRACTION INDUCED BY AN ADDITIONAL TASK AFFECT THE SEVERITY OF SIMULATOR SICKNESS SYMPTOMS IN PILOTS: A SPATIAL DISORIENTATION SIMULATOR STUDY

Introduction: To improve the effectiveness of spatial disorientation (SD) training in a flight simulator, pilots are recommended to perform an additional task that induces a mental distraction. The presented study explored how the inclusion of an additional task that may enhance the effectiveness of SD training changes the severity of simulator sickness symptoms reported after exposure in the Gyro-IPT simulator. Methods: We compared the incidence of simulator sickness symptoms in pilots across four setups of flight scenarios (varying according to cognitive load distraction) collected during our previous studies. A total of 77 male military pilots (age 28.3±6.2) with flight experience (810.72 ±969.43 hours) were randomly assigned to one of four groups and then exposed to a 60-min long flight session (12 flight profiles, six involved an SD-conflict) with active control in the Gyro IPT simulator. In addition to the primary flying task, in three flight scenarios, pilots were asked to perform an additional visual (a change detection flicker task [CDFT]), auditory (an auditory N-back task [NBT]), or duration-discrimination task (DDT)). To measure simulator sickness symptoms, the Simulator Sickness Questionnaire (SSQ) was administered pre- and post-simulator exposure. Results: The severity of simulator sickness symptoms due to visual and motion cues did not significantly change when the pilot performed a non-sickening cognitive task (additional visual or auditory task). The total SSQ score and scores for nausea, oculomotor disturbance, and disorientation in the CDFT and DDT were slightly higher than in the control condition (flight without additional task). Despite the observed differences, according to the SSQ scoring criteria, the simulator sickness symptoms reported by the pilots were negligible. Conclusions: The additional tasks (CDFT, auditory NBT, or DDT) applied to improve the effectiveness of SD training in the Gyro-IPT simulator do not significantly change unwanted effects, such as simulator sickness.

Wernicke encephalopathy in combination with acute polyneuropathy under the guise of a demyelinating disease in a teenager with an eating disorder

Wernicke encephalopathy is a neuropsychiatric syndrome characterized by three main symptoms: oculomotor disturbances, cerebellar ataxia, and psychiatric disturbances. The condition is associated with a high mortality and morbidity rate. Wernicke encephalopathy is most commonly seen in adolescent children presenting with a vitamin B1 deficiency. Thiamine deficiency may also cause polyneuritis syndrome, with or without the aforementioned symptoms. The condition is characterized by sensory-motor impairments in a symmetrical pattern, dysarthria, and paresis or even paralysis of the lower limbs. This report focuses on an adolescent case presenting acute oculomotor paresis, nystagmus, leg weakness, impaired gait, decreased deep tendon reflexes, cognitive impairment, and a history of recurrent vomiting, prolonged starvation, and eating behaviour disorders. The magnetic resonance imaging scan reveals symmetrical pathological foci of increased intensity in T2 in the periaqueductal region, at the Magendie’s central aperture. The patient displays a mixed motor-sensory polyneuropathic syndrome affecting both lower limbs, primarily of the axonopathy type, based on electroneuromyography data. Positive outcomes such as restored eyeball movement, enhanced gait, increased muscle strength in the lower legs and feet, and better management of sensory disorders have occurred due to thiamine treatment.

Fulminant Myocarditis Complicated by Stiff-person Syndrome: A Case Report

This case report described a 61-year-old woman who presented with dizziness, headache, muscle ache, diplopia, and vomiting who lost consciousness. Upon hospital admission, the levels of high-sensitivity cardiac troponin I and partial pressure of carbon dioxide were increased markedly. Loss of consciousness occurred twice after removal of invasive ventilator support. Coronary angiography demonstrated no stenosis in coronary arteries. Ultrasonography revealed inactivity of respiratory muscles. Oculomotor disturbance and autonomic-nerve dysfunctions were observed. Serum antibody against glutamic acid decarboxylase was positive. The rare phenotypes of persistent stiffness of muscles in the neck, face, bilateral upper and lower limbs were observed. The patient was diagnosed with fulminant myocarditis complicated by Stiff-person syndrome. Immunomodulatory treatment (glucocorticoids and immunoglobulins) elicited satisfactory therapeutic effects. In this case report, it was found that fulminant myocarditis and Stiff-person syndrome shared a common pathogenesis: “cytokine storm”. Such patients may benefit from early treatment with immunomodulatory agents.

One-step orbit reconstruction using PMMA implants following hyperostotic sphenoid wing meningioma removal: Evolution of the technique in short clinical series

PurposeTo report our experience with patient specific implants for one-step orbit reconstruction following hyperostotic SWM removal and to describe the evolution of the technique through three surgical cases. Methods: Three cases of one-step SWM removal and orbit reconstruction are described. All cases are given consecutively to describe the evolution of the technique. Hyperostotic bone resection was facilitated by electromagnetic navigation and cutting guides (templates). Based on a 3D model, silicone molds were made using CAD/CAM. Then PMMA implant was fabricated from these molds. The implant was adjusted and fixed to the cranium with titanium screws after tumor removal. Results: Following steps of the procedure changed over these series: hyperostotic bone resection, implant thickness control, implant overlay features, anatomic adjustments, implant fixation. The proptosis resolved in all cases. In one patient the progressive visual acuity deterioration was recognized during the follow-up. No oculomotor disturbances and no tumor regrowth were found at the follow-up. ConclusionCAD/CAM technologies enable creation of implants of any size and configuration, and thereby, to increase the extent of bony resection and lower the risk of tumor progression. The procedure is performed in one step which decreases the risk of postoperative morbidity.

Paraneoplastic cerebellar degeneration

Introduction. Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated and rapidly progressive cerebellar syndrome that develops as a result of a cross-immune response to the common antigens for the tumor and cerebellar cells. Timely diagnosis and treatment of PCD improves the functional status and survival of these patients.Objective. To analyze the clinical, laboratory and neuroimaging characteristics of PCD case series in comparison with literature data.Material and methods. 16 patients with PCD (13 women, 3 men) were examined. An assessment of the clinical presentation, brain MRI study, blood and cerebrospinal fl uid laboratory tests were carried out, the data of cancer search and patients follow-up were analyzed.Results. The median age of PCD patients was 55 years, the duration of the disease was 8.5 months (range 4 to 16 months). In 12 patients, PCD was the fi rst manifestation of cancer. The clinical prentation was presented by rapidly progressive cerebellar ataxia, often in combination with oculomotor disturbances, pyramidal and bulbar syndrome, hand tremor and dystonia. An associated cancers were detected in 13 patients (81%). Antineuronal antibodies were found in 14 patients (88%): anti-Yo-1, antibodies to amphiphysin, anti-Hu, anti-CV2 and anti-GAD. Mild atrophic changes of the cerebellum were found in 6 patients, and in 2 cases cerebellar hemiatrophy was observed.Conclusion. PCD is a rare disabling but potentially curable disease. The basis of diagnosis is the analysis of the clinical presentation and neuroimaging data, the detection of antineuronal antibodies and in fl ammatory changes in the cerebrospinal fl uid, as well as a thorough cancer search.

Prevalence of cervical postural alterations in oculomotor disturbances: a Brazilian cohort study

The literature suggests that maintaining correct posture depends on a balance between orientation and balance, which is linked to the reflex relationship between the oculomotor system and the superior cervical spine. Any disruption to this relationship can cause postural deviation, as the posture is dependent on head balance and eye horizontality. This study aimed to investigate the prevalence of cervical posture alterations, such as head tilt, rotation, and protrusion, scapular waist changes, scoliosis, kyphosis, and lumbar hyperlordosis, in patients with oculomotor disturbances, including convergent, divergent, and vertical squint, and convergence insufficiency. The study evaluated 24 patients aged between 4 and 39 years old, both male and female, through ocular motility and postural examination. The results showed that all patients with oculomotor disturbances also had postural imbalances, and the percentage of alterations in the posture segments was high. Therefore, oculomotor disturbances can cause postural imbalance, leading to orthopedic and facial asymmetry. The study concluded that patients with oculomotor disturbances should be evaluated to determine the compensatory positions they adopt and set a better visual performance that does not alter their appearance in the long term.

Prevalence, clinical features, and radiological pattern of artery of Percheron infarction: a challenging diagnosis.

Occlusion of artery of Percheron (AOP), a rare variant of paramedian branches of posterior cerebral artery, results in a characteristic pattern of ischemic lesions in bilateral paramedian thalami with or without midbrain and anterior thalami involvement. To evaluate the prevalence, the clinical, and the imaging features of AOP infarction in a single comprehensive stroke center experience. We retrospectively search in our stroke center database, patients with ischemic lesions in the AOP distribution. We collected clinical features and time between hospital admission and diagnosis. Imaging findings were categorized following a pre-selected classification. Of 2830 ischemic stroke admitted in our center, we identified 15 patients with AOP infarction (0.53%). Clinical manifestations were variable, but oculomotor disturbances, particularly vertical gaze palsy, were the most observed, followed by consciousness impairment, varying from drowsiness to coma. The most frequent imaging pattern was bilateral paramedian thalamic infarction with midbrain infarction, and the V-sign was recognized in 6 cases from this group. In 8 patients a fetal origin of the PCA was observed. The average time from first hospital admission to diagnosis was 28.09h. The prevalence of AOP infarction in our center was 0.53%. Diagnosis of AOP infarction can be challenging and should be suspected in case of sudden altered consciousness.

Gastrointestinal carcinoma first presenting as pituitary mass: recognition of a rare case and multidisciplinary approach for the management of pituitary metastases

Abstract Introduction PMs (pituitary metastases) are rare and only a few cases are reported in the literature. In half of the documented cases, PMs originate from breast and lung cancers, rarely from other sites. They can grow rapidly and present local invasiveness, leading to acute onset of neurological symptoms, such as headache, visual and oculomotor disturbances, or endocrinological signs, such as diabetes insipidus and hypopituitarism. Their rarity and the lack of specific clinical and radiological features often impede their differentiation from other more common sellar area lesions, particularly when history of malignancy is absent. As PMs can be life-threatening, they must be recognized and treated promptly. Management of PMs may also be difficult because the prognosis depends on the course of the primary neoplasm. The case presented below is one of the few documented cases in the world of a pituitary metastasis from a primary gastrointestinal carcinoma. Clinical Case A 76-year-old woman, with no history of malignancy, presented with headache, dizziness and diplopia. Neurologic examination was remarkable for complete left ophthalmoplegia associated with sensitivity deficit in the left half face. Radiologic investigations documented a voluminous sellar and suprasellar formation, with extension in the ipsilateral cavernous sinus, compressing the optic chiasm and ipsilateral temporal lobe. The mass appeared heterogeneous as component of apoplectic infarction. Left cavernous sinus syndrome in apoplectic macroadenoma was diagnosed. Surgical removal of the lesion was performed through a transsphenoidal endoscopic endonasal approach. The histological exam disclosed a metastasis of adenocarcinoma with widespread necrotic-haemorrhagic elements. The immunohistochemical profile suggested an origin from a primary gastrointestinal carcinoma. Hormone replacement therapy and adjuvant therapy were instituted, although radiological investigations failed to identify the site of the primary gastrointestinal carcinoma. Postoperative MRI showed a parasellar residual tumor, which was radiologically stable at 6-month follow-up. The patient will undergo a radiotherapy and neurosurgical evaluation. Conclusions Clinicians should consider the possibility of PMs in patients with symptoms and signs that may suggest the presence of a pituitary mass. Since PMs can be cancer first manifestation, the recognition of PMs determines the referral to adequate oncological therapy. Prognosis is usually poor and it's difficult to estimate as it varies significantly depending on the systemic disease and the primary histology. Recognition and management of PMs remain complex and require a multidisciplinary team of endocrinologists, oncologists, neurosurgeons and neuroradiologists.

NCMP-10. NEURO-OPHTHALMOLOGICAL FINDINGS IN CHILDREN AND ADOLESCENTS WITH MEDULLOBLASTOMA - A RETROSPECTIVE ANALYSIS

Abstract BACKGROUND Medulloblastoma represents the most common malignant pediatric brain tumor. Ophthalmic complications are possible sequelae. METHODS Pediatric medulloblastoma (MB) patients treated at the Medical University of Vienna from January 2012 to August 2021 were analyzed and their last ophthalmic assessment was reviewed. RESULTS Fifty-six MB patients could be included (71.4% non-WNT/non-SHH, 16.1% SHH-activated, 8.9% WNT-activated, 3.6% non-specified). Mean age at diagnosis was 7.2 years (range 0-19). Median follow-up to last ophthalmological assessment was 19.7 months (range 0.1-93.2). Thirty-four children underwent tumor resection at our hospital, their tumor localizations were: vermis (55.9%), floor of the 4th ventricle (26.5%), cerebellar hemispheres (11.8%), lateral recess (5.9%). Symptoms at presentation were evaluable for 51 children: 92.2% had symptoms of elevated intracranial pressure, 76.5% ataxia and 21.6% visual disturbances. Postoperative posterior fossa syndrome was observed in 11.1% of 54 children. 98.2% had chemotherapy as part of their initial treatment and all children older than four years (85.7%) received postoperative irradiation of the posterior fossa. In 13 (23.2%) intraventricular chemotherapy was applied. At the last follow-up 21 patients experienced relapse after primary treatment. At the final assessment, frequent neuro-ophthalmological abnormalities included: oculomotor disturbance (75%), esotropia (35.7%) including abducens palsy (12.5%), other cranial nerve palsies (21.4%), horizontal gaze-evoked nystagmus (51.8%), spontaneous nystagmus (16.1%), ocular tilt reaction (21.4%), and optic disc abnormalities (14.3%). Good visual acuity (≥20/25) was maintained in 62.5% patients. Visual field and optical coherence tomography was successfully performed in 75% and 66.1% of patients, respectively. Optic pathway lesions were detected in 4 patients (7.1%), including two cases with occipital metastases, one with optic nerve metastasis and one with leptomeningeal carcinomatosis. Orthoptic treatment with prisms and strabismus surgery was required in 14.3% and 7.7% of children, respectively. CONCLUSION Children with MB frequently suffer from neuro-ophthalmological late-effects. Regular monitoring is warranted to initiate appropriate management.

Developmental Eye Movement (DEM) and King-Devick (K-D) Performance in Multiple Sclerosis.

Eye movement disorders have been reported in patients with multiple sclerosis (MS) as saccadic disturbances. Several methods have been described for the assessment of saccades, including the K-D and DEM tests. The performance of these tests also involves attention, language, and other brain areas which have been reported to be altered in MS patients. The aim of the study was to determine how developmental eye movement (DEM) and King-Devick (K-D) tests are affected in MS-patients. It was also to analyze whether a resolved episode of optic neuritis (ON) has a negative influence. Subjects with MS showed worse outcomes (higher times) in DEM test (72 (26) s and a K-D test (56 (22) s compared to healthy subjects (64 (7) s and 55 (11) s, respectively). However, a previous ON episode did not worsen the MS-times of DEM (80 (33) s or of K-D (62 (33) s. Horizontal saccades with the DEM showed differences between subjects with MS (with and without ON) and healthy ones (p < 0.05), whereas no such differences were found in the vertical saccades. According to the DEM instructions, MS patients would present heterogeneous oculomotor and non-visual disturbances. Regarding the K-D test, only the third card (the most complex one) showed differences (p < 0.05) between groups. These tests can capture impairment of attention, language, and other areas that correlate with suboptimal brain function in addition to the oculomotor dysfunctions present in subjects with MS.

Wernicke encephalopathy after chronic pancreatitis exacerbation. Case report

Wernicke encephalopathy (WE), is an emergency acute neuropsychiatric condition, which develops secondary to thiamine deficiency. According to data of multiple investigations, this disorder is greatly underdiagnosed. WE classically connected to chronic alcohol abuse, but also diagnosed in non‑alcoholic patients with different risk factors including severe vomiting, chronic malnutrition, systemic infections, malignancies, chemotherapy, HIV/AIDS, gastrointestinal surgeries or disease, and renal problems.&#x0D; We present a case of a 33‑year‑old woman with history of chronic pancreatitis exacerbation with prolonged vomiting, present to the neurological department with neurological symptoms consistent with WE. WE was suspected according to triad of symptoms, such as altered mental state, oculomotor disturbances and ataxia. Brain magnetic resonance imaging (MRI) and thiamine blood level aid us to confirm WE diagnosis. The patient was given thiamine, at the dosage of 200 mg 3 times per day intravenously for seven days, followed by oral thiamine. Gaze paresis disappeared at day 10, truncal ataxia noticeably improved after two weeks. The patient was left with some signs of anterograde amnesia, gaze‑provoked nystagmus at the two month follow‑up.&#x0D; Physicians should be familiar with clinical presentation of WE in non‑alcoholic patients with appropriate history and risk factors, like prolonged emesis, unbalanced diet, malignancies, etc. Presence of classic triad of clinical symptoms and pathological findings on brain MRI are the most important diagnostic tool, while the blood thiamine level may be within the normal range. Early diagnosis and therapy onset are crucial for patients to prevent further irreversible complications or death.&#x0D;

LENCEPHALOPATHIE DE GAYET-WERNICKE CHEZ UNE PATIENTE SUIVIE POUR PANCREATITE: A PROPOS DUN CAS

Gayet-Wernicke encephalopathy is a serious complication of thiamine deficiency characterized by a clinical triad: confusional state, oculomotor disturbances, and cerebellar ataxia. Alcoholism is the main cause of thiamine deficiency. Severe pancreatitis through prolonged fasting and vomiting may exceptionally give a similar clinical picture which sometimes poses diagnostic difficultiesDiagnosis is based on brain imaging by showing on MRI a T2 or FLAIR hypersignal affecting the peri-aqueductal region, the medial part of the thalamus, the floor of the fourth ventricle, the vermis, the mammillary bodies and, sometimes, the cortex. Treatment consists of rapid intravenous administration of thiamine. We report a case of 66-year-old patient followed for severe pancreatitis whose evolution was marked by the onset of a consciousness disorder whose investigations returned in favor of Gayet-Wernicke encephalopathy.

Spinocerebellar ataxia type 8 in Russian patients

To assess the incidence of spinocerebellar ataxia type 8 (SCA8) in patients with progressive cerebellar ataxia and describe the clinical features of the SCA8 phenotype in Russian patients. Genotyping of CTA/CTG repeats in ATXN8OS gene was carried out in 411 patients with degenerative ataxias using fragment analysis. SCA types 1, 2, 3 and 6 as well as Friedreich's ataxia were preliminarily excluded. All patients underwent brain MRI study. Scale for the Assessment and Rating of Ataxia (SARA), and the Montreal Cognitive Assessment Scale (MoCA) to screen for cognitive impairment were used. Six patients with SCA8 (1.5%) were identified as carriers of the expansion in the ATXN8OS gene (91-152 CTA/CTG repeats). All cases were sporadic. Age of onset ranged from 14 to 42 years. All patients had slowly progressive cerebellar ataxia, oculomotor disturbances, dysarthria, pyramidal signs, and two patients had cognitive impairment. In one patient the clinical presentation corresponded to multiple system atrophy cerebellar type (ataxia, orthostatic hypotension, cerebellum and brainstem atrophy). Brain MRI study in all patients revealed cerebellar atrophy. SCA8 is a rare form of autosomal dominant ataxia with a predominance of the classical phenotype. All identified cases of SCA8 were sporadic, which should be taken into account when planning genetic testing in patients with spinocerebellar ataxia.

Artery of Percheron Ischaemic Stroke: A Classic Presentation of a Rare Case.

The artery of Percheron (AoP) is a rare anatomic variant, where the paramedian thalami and the rostral midbrain are supplied by an artery emerging from the P1 segment of the posterior cerebral artery. Ischaemic infarction of the artery of Percheron occurs rarely, accounting for 0.1 to 2% of all ischaemic strokes. AoP occlusion can lead to an infarction of the paramedian thalami and mesencephalon, resulting in a triad of clinical features; namely, altered mental status, vertical gaze palsy and memory impairment. A larger mesencephalon infarction can also feature oculomotor disturbances. We describe here the case of an 88-year-old patient, presenting with this triad of features.LEARNING POINTSNeurological events such as ischaemic strokes can have a wide clinical presentation.Artery of Percheron infarction is characterized by memory impairment, vertical gaze palsy and altered mental status.Pattern recognition is fundamental for early diagnosis and optimal care.

Acute-onset binocular diplopia in neurological unit: Aetiological factors and diagnostic assessment.

To investigate the aetiology of acute-onset binocular diplopia (AOBD) in neurological units and identify the key diagnostic procedures in this setting. Clinico-demographic data from patients hospitalized for AOBD from 2008 to 2019 were retrospectively reviewed. AOBD due to an underlying neurological disorder known to cause diplopia was addressed as secondary diplopia. Ophthalmoparesis plus was defined when subtle neurological signs/symptoms other than ophthalmoparesis were detected during neurological examination. A total of 171 patients (mean age 57.6years) were included in the study. A total of 89 subjects (52%) had an oculomotor disturbance consistent with sixth nerve palsy, and 42 (24.6%) showed multiple oculomotor nerve involvement. The most common cause of AOBD was presumed to be microvascular in 56 patients (32.7%), while a secondary aetiology was identified in 102 (59.6%). Ophthalmoparesis plus and multiple oculomotor nerve involvement significantly predicted a secondary aetiology in multivariable logistic regression analysis. Brain CT was never diagnostic in isolated ophthalmoparesis. A combination of neuroimaging examinations established AOBD diagnosis in 54.9% of subjects, whereas rachicentesis and neurophysiological examinations were found to be performant in the remaining cases. AOBD may herald insidious neurological disease, and an extensive diagnostic workup is often needed to establish a diagnosis. Neurological examination was pivotal in identifying patients at higher risk of secondary aetiology. Even in cases of apparently benign presentation, a serious underlying disease cannot be excluded. Brain MRI was found to perform well in all clinical scenarios, and it should be always considered when managing AOBD.

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, PRKN, PINK1, and DJ-1 cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, including ATP13A2, PLA2G6, FBXO7, DNAJC6, SYNJ1, VPS13C, and PTRHD1, cause rarer, more severe diseases with a poor response to levodopa, generally with additional atypical features. We performed data mining on a gene panel or whole-exome sequencing in 460 index cases with early-onset (≤ 40 years) Parkinson's disease, including 57 with autosomal recessive disease and 403 isolated cases. We identified two isolated cases carrying biallelic mutations of SYNJ1 (double-heterozygous p.D791fs/p.Y232H and homozygous p. Y832C mutations) and two siblings with the recurrent homozygous p.R258Q mutation. All four variants were absent or rare in the Genome Aggregation Database, were predicted to be deleterious on in silico analysis and were found to be highly conserved between species. The patient with both the previously unknown p.D791fs and p.Y232H mutations presented with dystonia-parkinsonism accompanied by a frontal syndrome and oculomotor disturbances at the age of 39. In addition, two siblings from an Algerian consanguineous family carried the homozygous p.R258Q mutation and presented generalized tonic-clonic seizures during childhood, with severe intellectual disability, followed by progressive parkinsonism during their teens. By contrast, the isolated patient with the homozygous p. Y832C mutation, diagnosed at the age of 20, had typical parkinsonism, with no atypical symptoms and slow disease progression. Our findings expand the mutational spectrum and phenotypic profile of SYNJ1-related parkinsonism.