A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD
AbstractCreutzfeld –Jakob disease (CJD) is a fatal neurodegenerative disease which belongs to the family of transmissible spongiform encephalopathies (TSEs), or prion diseases. Historically, CJD diagnosis has been based on the combination of clinical features and in vivo markers, including CSF protein assays, MRI an d EEG changes. Brain-derived CSF proteins, such as 14-3-3,t-tau andp-tau have been largely used to support the diagnosis of probable CJD, although with certain limitations concerning sensitivity and specificity of these tests. More recently, a new method for the pre-mortem diagnosis of sporadic CJD has be...
Source: Acta Neurologica Belgica - January 24, 2021 Category: Neurology Source Type: research

Multimodal imaging for a TIPIC syndrome case
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 23, 2021 Category: Neurology Source Type: research

Isolated mitochondrial myopathy due to m.3243A   & gt;  G mutation in MT-TL1 gene
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 23, 2021 Category: Neurology Source Type: research

The course of cervical spinal cord atrophy rate and its relationship with NEDA in relapsing remitting multiple sclerosis
This study aimed to compare the annualized segmental cervical spinal cord atrophy rate (ASCAR) in the early and late stages of relapsing remitting multiple sclerosis (RRMS), and to investigate the relationship between ASCAR and no evidence of disease activity (NEDA) in RRMS. Participants in this study included early stage MS (EMSg) patients, late stage MS (LMSg) patients, and healthy controls. All of the included participants (n = 175 subjects) were followed up for 14 months, and an MRI was performed on each participant at the beginning and at the end of the study. Cervical spinal cord average segmental ...
Source: Acta Neurologica Belgica - January 21, 2021 Category: Neurology Source Type: research

Opicapone and acute levodopa challenge test: the big issue
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 20, 2021 Category: Neurology Source Type: research

SARS-CoV-2: its potential neurological manifestations and plausible mechanism: a review article
AbstractCoronavirus disease (COVID-19) was first identified in late December 2019. The disease began in Wuhan, Hubei province in China and since then it has spread quickly to many countries all over the world. COVID-19 is caused by a novel coronavirus, named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The virus was majorly seen to overwhelm the respiratory system with mild to severe acute respiratory syndrome considered pathognomic for the disease. However, with time a plethora of symptoms was observed in the patients infected with COVID-19 including strong evidence for neurological symptoms. Evidence sug...
Source: Acta Neurologica Belgica - January 19, 2021 Category: Neurology Source Type: research

The chronic muscle injury secondary to crayfish-related Haff disease
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 18, 2021 Category: Neurology Source Type: research

Alexithymia, depression, and cognition in patients with Parkinson ’s disease
In this study, we examined the relation of alexithymia with cognition and depression in non-demented patients with Parkinson's disease (PD).Materials and methodsFort-two consecutive non-demented patients PD and 40 healthy controls were enrolled in the study. The Turkish version of the Montreal Cognitive Assessment scale (MOCA-TR), 20-item Toronto Alexithymia Scale (TAS-20) (F1, F2, F3 subgroups), and Beck Depression Inventory (BDI-I) were used to evaluate cognitive functions, alexithymia, and depression, respectively, in both groups.ResultsThe total TAS-20 score was 55.71  ± 19 in the PD group and 46.3...
Source: Acta Neurologica Belgica - January 16, 2021 Category: Neurology Source Type: research

Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review
AbstractDopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with sizeable genetic diversity and myriad presentations. DRD has onset in childhood or adolescence with focal dystonia, commonly affecting lower limb, diurnal fluctuations with evening worsening of symptoms and a demonstrable sleep benefit. DRD “plus” has “atypical features” which include infantile onset, psychomotor delay, cognitive abnormalities, oculogyric crisis, seizures, irritability, spasticity, hypotonia, ptosis, hyperthermia and cerebellar dysfunction. Neurodegeneration, however, is not a feature of ei...
Source: Acta Neurologica Belgica - January 16, 2021 Category: Neurology Source Type: research

A fatal case of glycine receptor antibody-mediated autoimmune encephalitis
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 15, 2021 Category: Neurology Source Type: research

Neuro-image: bilateral acute infarction of the middle cerebellar peduncles
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 15, 2021 Category: Neurology Source Type: research

Open the eyes to see the lesion: the hidden stroke
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 12, 2021 Category: Neurology Source Type: research

A combined clinical and computational approach to understand the SOD1 A4T -mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis
We report a phenotypically distinct patient with fALS due to the SOD1A4T mutation and further expand the largest pedigree ever published for SOD1A4T-linked fALS. Genotype ‒phenotype correlation in fALS is complex, and it demands detailed clinical investigation and advanced scientific research. Awareness of the broadened phenotypic spectrum might potentially enhance the diagnosis and genetic counseling of fALS. (Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 9, 2021 Category: Neurology Source Type: research

Associations between C-reactive protein and white blood cell count, occurrence of delayed cerebral ischemia and poor outcome following aneurysmal subarachnoid hemorrhage: a systematic review and meta-analysis
AbstractThis review and meta-analysis investigated associations of systemic inflammatory marker C-reactive protein (CRP) and white blood cell count (WBC) with occurrence of delayed cerebral ischemia (DCI) and poor functional outcome after aneurysmal subarachnoid hemorrhage (aSAH). Pubmed, EMBASE, and CENTRAL databases were searched until November 30, 2019, selecting prospective and retrospective studies of patients with spontaneous SAH due to ruptured aneurysm. Outcome measures were occurrence of DCI, defined as new focal neurological deficit or a deterioration of consciousness; and/or a new infarct on computed tomography ...
Source: Acta Neurologica Belgica - January 9, 2021 Category: Neurology Source Type: research

MRI appearance of anaplastic extraventricular ependymoma
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 9, 2021 Category: Neurology Source Type: research

Endoscopic third ventriculostomy for the treatment of Blake's pouch cyst in adulthood
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 9, 2021 Category: Neurology Source Type: research

Effect of phosphatidic acid on antiganglioside antibody reactivity in the isolated facial diplegia variant of Guillain –Barré syndrome: a case report
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 8, 2021 Category: Neurology Source Type: research

Toxic encephalopathy induced by radix Sophorae tonkinensis
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 8, 2021 Category: Neurology Source Type: research

Coexistence of Becker muscular dystrophy and HLA-B27 positive spondyloarthritis
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 6, 2021 Category: Neurology Source Type: research

Role of the ophthalmic artery in the endovascular treatment for intracranial vascular diseases
AbstractThe ophthalmic artery (OA) is a crucial artery. Centered at the OA, there are numerous extracranial –intracranial anastomoses. The OA and its collaterals can be involved in some intracranial vascular diseases. So, it is very important to understand its specific anatomy, variation, and role in different neurovascular diseases. The OA has various anomalies both in the origin and collateral circula tion. When performing endovascular treatment (EVT), the OA may suffer unexpected embolization through the numerous dangerous anastomoses. In case of a dural arteriovenous fistula or brain arteriovenous malformation ma...
Source: Acta Neurologica Belgica - January 5, 2021 Category: Neurology Source Type: research

Neurotuberculosis: an update
AbstractTuberculous (TB) meningitis (TBM), accounting for 70 –80% of cases of neurotuberculosis, is one of the most severe forms of extrapulmonary tuberculosis. Two-thirds of new TB cases come from eight countries. Polymorphisms in toll–interleukin-1 receptor domain and in leukotriene A4 hydrolase (LTA4H) gene, affect the risk of inflammation in TBM. The common site of tuberculoma in children is cerebellum, and they may rarely develop tuberculous encephalopathy which has a high mortality. Young females with a high cerebrospinal fluid (CSF) protein have an increased predisposition to develop optochiasmatic arach...
Source: Acta Neurologica Belgica - January 5, 2021 Category: Neurology Source Type: research

Thoracolumbar spinal arteriovenous shunt as a rare cause of thunderclap headache in a young man
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 5, 2021 Category: Neurology Source Type: research

Fulminant acute hemorrhagic leukoencephalopathy: ineffective treatment with immunotherapy
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 5, 2021 Category: Neurology Source Type: research

Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients
AbstractIn the second most common dystrophy associated with predominant pelvic and shoulder girdle muscle weakness termed Limb-Girdle Muscular Dystrophy (LGMD), genetic complexity, large phenotypic variability, and clinical overlap can result in extensive diagnostic delays in certain individuals. In view of the large strides genetics has taken in this day and age, we address the question if muscle biopsies can still provide diagnostic evidence of substance for these patients. We reviewed and reanalyzed muscle biopsy characteristics in a cohort of LGMD patient pairANO5s in which gene variants were picked up inCAPN3,FKRP,TTN...
Source: Acta Neurologica Belgica - January 5, 2021 Category: Neurology Source Type: research

Ophthalmologic manifestations in myasthenia gravis: presentation and prognosis
AbstractWe investigated the ophthalmologic manifestations and factors that influence outcomes in patients with myasthenia gravis (MG). We retrospectively analyzed the prevalence of neuro-ophthalmologic findings and clinical and outcome measures of 100 consecutive patients (53 males, 47 females), aged 55.7  ± 17.5 (range 15–85) years with an established diagnosis of MG. Forty-eight patients had purely ocular symptoms at the onset of disease (OMG) and 52 patients presented with generalized symptoms (GMG). Overall, 21 patients presented with extraocular muscle (EOM) weakness. Bilateral EOM weakne ss...
Source: Acta Neurologica Belgica - January 4, 2021 Category: Neurology Source Type: research

Isolated neurobrucellosis —characteristic clinical and laboratory features
AbstractTo report various neurological syndromes, CSF findings, imaging and diagnostic methods used in neurobrucellosis patients admitted in our Neurology department over a period of 6  years. Case records of patients admitted to our department from August 2014 to May 2020 were searched for neurobrucellosis and data were obtained. A total of 19 patients were diagnosed as neurobrucellosis over a period of 6 years. Ten patients had chronic meningitis, five had VIII nerve involveme nt, one had optic neuritis, two had acute meningitis, one had subacute meningitis, four had myelopathy, five had polyradiculitis and two...
Source: Acta Neurologica Belgica - January 4, 2021 Category: Neurology Source Type: research

Paracoccidioidomycosis of the central nervous system with pulmonary involvement: typical imaging findings
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 4, 2021 Category: Neurology Source Type: research

Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 4, 2021 Category: Neurology Source Type: research

Spinal subdural hygroma
AbstractA spinal subdural hygroma is a rare entity. In this review, we try to contribute to the pooling of current knowledge about spinal subdural hygroma, from embryology and physiology until radiological detection and treatment. The relevant articles in the literature regarding spinal subdural hygroma were reviewed, using a sensitive search strategy on Internet databases. A spinal subdural hygroma is associated with trauma, iatrogenic causes, spontaneous intracranial hypotension headache, and probably meningitis. MR imaging is the golden standard for diagnosis. Treatment of the hygroma is almost always conservative and s...
Source: Acta Neurologica Belgica - January 3, 2021 Category: Neurology Source Type: research

Esophageal dysphagia in neuromuscular disorder patients with validity and reliability study of the brief esophageal dysphagia questionnaire
AbstractEsophageal dysphagia (ED) is often underestimated in neuromuscular disorders (NMD) and it is important to evaluate the esophageal phase of swallowing with an easy and rapid screening test. We aimed both to assess the prevalence of ED in NMD and to perform validity and reliability study of the brief easophageal dysphagia questionnaire (BEDQ) screening test in NMD patients. This prospective cross-sectional clinical study was performed on NMD patients. Demographic features and disease characteristics were recorded. Endoscopic evaluation for oropharyngeal dysphagia (OD) and high-resolution esophageal manometry for ED w...
Source: Acta Neurologica Belgica - January 3, 2021 Category: Neurology Source Type: research

Isoniazid-induced cerebellitis with atypical involvement of the central tegmental tracts
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 3, 2021 Category: Neurology Source Type: research

Paraneoplastic syndrome or immune-related adverse event? A case of rhomboencephalitis in a patient treated with Pembrolizumab
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 3, 2021 Category: Neurology Source Type: research

Development of high signal intensity within the globus pallidus and dentate nucleus following multiple administrations of gadoterate meglumine in a patient with neurotuberculosis
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 3, 2021 Category: Neurology Source Type: research

Neuroimage: the crescent moon sign of Hirayama disease
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 2, 2021 Category: Neurology Source Type: research

Deep cerebral venous sinus thrombosis with transient antiphospholipid antibodies in COVID-19 disease
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - January 2, 2021 Category: Neurology Source Type: research

Management of benign nerve sheath tumors of the brachial plexus: relevant diagnostic and surgical features. About a series of 17 patients (19 tumors) and review of the literature
AbstractBrachial plexus (BP) tumors are rare, potentially difficult-to-manage lesions. The method  is retrospective chart analysis. Among the 17 patients, four had neurofibromatosis and one schwannomatosis (NF +). The latter has bilateral BP tumors that remain stable on MRI at a 6.5 year follow-up. Another NF + patient has bilateral non-operable BP plexiform neurofibromas. The complaints of the 15 operated patients were radiated pain, a mass, local pain, paresthesia, a neurological deficit (n = 15, 12, 7, 10, 7). On MRI, the tumors appeared as nodular or ovoid large masses. Four...
Source: Acta Neurologica Belgica - January 2, 2021 Category: Neurology Source Type: research

Rabbit syndrome in anti-NMDAR antibody encephalitis: a unique association
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - November 4, 2020 Category: Neurology Source Type: research

Utility of phrenic nerve ultrasound in amyotrophic lateral sclerosis
This study aims to sonographically evaluate the morphologic appearance of the PN of ALS patients. Thirty-eight ALS patients and 28 normal controls referred to the neurophysiology laboratory of two institutions were retrospectively included in the study. Baseline demographic and clinical variables such as disease duration, ALS Functional Rating Scale-Revised score, and ALS region of onset were collected. Ultrasound was used to evaluate the PN cross-sectional area (CSA) of ALS and control subjects. The mean PN CSA of ALS patients were 1.08  ± 0.39 mm on the right and 1.02 ± 0.34...
Source: Acta Neurologica Belgica - November 2, 2020 Category: Neurology Source Type: research

Long term follow-up of shunted idiopathic normal pressure hydrocephalus patients: a single center experience
This study aims to describe the long-term experience with patients with iNPH submitted to ventriculoperitoneal shunt (VPS) with the programmable valve STRATA ® (Medtronic). We prospectively selected a cohort of patients with a diagnosis of iNPH from January 2010 to April 2013 in a Brazilian tertiary hospital. All patients underwent clinical evaluation, which consists of the Mini-Mental State Examination and Time Up and Go tests and the application of Ja panese Scale for Idiopathic Normal Pressure Hydrocephalus in three stages: prior to the TT, 3 h after the TT and 72 h after the TT. Fifty patients were submit...
Source: Acta Neurologica Belgica - November 2, 2020 Category: Neurology Source Type: research

Red blood cell distribution width and mortality in traumatic brain injury
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - November 2, 2020 Category: Neurology Source Type: research

Neuromyelitis optica spectrum disorder complicated with Sj ögren’s syndrome: first pediatric case responsive to mycophenolate mofetil treatment
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - November 2, 2020 Category: Neurology Source Type: research

Transient cortical blindness secondary to contrast-induced encephalopathy following diagnostic cerebral angiography: report of 2 cases
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 29, 2020 Category: Neurology Source Type: research

Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
We present the 3-year treatment outcome for a child with PDE on pyridoxine treatment (started at age 5  months), lysine-restricted diet (started at age 17 months) and arginine supplementation therapy (started at age 19 months). The TT was well-tolerated with good compliance. No adverse events were reported. We observed a neurodevelopmental improvement, significantly fewer seizures, and a reduction of pipecolic acid (PA) as a biomarker of the illness. Our results show an improving clinical evolution, supporting and extending previous studies reporting efficacy of TT. (Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 28, 2020 Category: Neurology Source Type: research

Endovascular treatment for aneurysms at the A1 segment of the anterior cerebral artery: current difficulties and solutions
AbstractAneurysms located at the A1 segment of the anterior cerebral artery are considered rare and unique entities. Endovascular treatment (EVT) is effective in preventing aneurysmal bleeding. However, EVT for A1 aneurysms is difficult due to their distinctive configurations. A current review of EVT for A1 aneurysms is lacking. Therefore, we focused on the available literature on this specific issue. To more clearly expound this entity, we also provided some illustrative cases. The A1 segment can be equally divided into the proximal, middle, and distal segments. Proximal aneurysms are most common and difficult to treat vi...
Source: Acta Neurologica Belgica - October 27, 2020 Category: Neurology Source Type: research

Type 1 cryoglobulinemic neuropathy associated with lymphoplasmacytic lymphoma
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 26, 2020 Category: Neurology Source Type: research

Women with sleep disorders face increased odds of sudden death in Parkinson ’s disease
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 24, 2020 Category: Neurology Source Type: research

Brain MRI abnormalities in a child with spinal muscular atrophy type II
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 20, 2020 Category: Neurology Source Type: research

Dilated pupils in an anxious patient
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 17, 2020 Category: Neurology Source Type: research

Obinutuzumab use complicated by progressive multifocal leukoencephalopathy in a patient with chronic lymphocytic leukemia: a case report
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - October 15, 2020 Category: Neurology Source Type: research

Categorising a problem: alcohol and dementia
AbstractAlcoholism is a chronic relapsing disorder that can include extended periods of abstinence followed by relapse to heavy drinking. Decades of evidence have clearly shown that long-term, chronic ethanol exposure produces brain damage in humans. The article aims to review the relationship between alcohol use and dementia. Medline and Google Scholar searches were conducted for relevant articles, chapters and books published until 2019. Search terms used included alcohol consumption, alcohol-related dementia, alcohol use disorders, chronic alcoholism, dementia. Publications found through this indexed search were reviewe...
Source: Acta Neurologica Belgica - October 14, 2020 Category: Neurology Source Type: research