The DeMyers: Marian (1922 –2012) and William (1924–2008)
(Source: Journal of Neurology)
Source: Journal of Neurology - December 7, 2023 Category: Neurology Source Type: research
A retrospective study of accuracy and usefulness of electrophysiological exercise tests
ConclusionsElectrophysiological exercise test is not optimal to exclude skeletal muscle channelopathy. It may be useful if a skeletal muscle channelopathy is suspected and genetic testing is negative or indeterminate and further evidence is required. Slightly abnormal exercise test results are possible in various conditions and result from different aetiologies. There is a demand for neurophysiological studies with higher sensitivity to detect skeletal muscle channelopathies. (Source: Journal of Neurology)
Source: Journal of Neurology - December 6, 2023 Category: Neurology Source Type: research
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT-experienced (n = 6) and three ambulatory cohorts, (two enzyme replacement therapy [ERT]-experienced cohorts [2–6 years (n = 11) and ≥ 7 years (n = 6)]), one ERT-naïve cohort (n = 6), received 20 mg/kg intravenous-infused cipa plus 260 mg oral mig biweekly. Change from baseline (CFBL) for multiple efficacy endpoints at 12, 24, 36, and 48 months, pharmacodynamics, pharmacokinetics, safety, and immunogenicity data were assessed. Six-minute walking distance (% predi...
Source: Journal of Neurology - December 6, 2023 Category: Neurology Source Type: research
Ernest de Massary (1866 –1955)
(Source: Journal of Neurology)
Source: Journal of Neurology - December 6, 2023 Category: Neurology Source Type: research
Long-term neurological symptoms after acute COVID-19 illness requiring hospitalization in adult patients: insights from the ISARIC-COVID-19 follow-up study
(Source: Journal of Neurology)
Source: Journal of Neurology - December 6, 2023 Category: Neurology Source Type: research
Neurological toxicities of targeted therapies in melanoma: a multicenter national observational study of the French Group of Skin Cancers (Groupe de Canc érologie Cutanée, GCC)
(Source: Journal of Neurology)
Source: Journal of Neurology - December 6, 2023 Category: Neurology Source Type: research
Upper and lower limb tremor in Charcot –Marie–Tooth neuropathy type 1A and the implications for standing balance
ConclusionsTremor is a common clinical feature in CMT1A, distinct from essential tremor, mediated by a complex interaction between peripheral and central mechanisms. Postural lower limb tremor is associated with imbalance; strategies aimed at tremor modulation could be of therapeutic utility. (Source: Journal of Neurology)
Source: Journal of Neurology - December 5, 2023 Category: Neurology Source Type: research
Gut microbiota and metabolome in sporadic Creutzfeldt –Jakob disease
ConclusionOur findings provide new insights into the relationship between gut microbiota and metabolites and sCJD. Some compounds, especially those related to the biosynthesis of phenylpropanoids were significantly altered in patients with sCJD, and those related to linoleic acid metabolism and steroid hormone biosynthesis might be biomarkers of evaluating disease severity. (Source: Journal of Neurology)
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Left atrial appendage flow velocity predicts occult atrial fibrillation in cryptogenic stroke: a CRYPTON-ICM registry
ConclusionsLAA-FV < 37.5 cm/s predicts AF. TEE is useful not only to evaluate potential embolic sources, but also for long-term detection of AF on ICM by measuring LAA-FV in cryptogenic stroke.http://www.umin.ac.jp/ctr/ (UMIN000044366). (Source: Journal of Neurology)
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Rapid switching from levetiracetam to brivaracetam in pharmaco-resistant epilepsy in people with and without intellectual disabilities: a naturalistic case control study
ConclusionsSwitching from LEV to BRV appears as well tolerated and efficacious in PwID as those without ID with over 90% still on BRV after 12 months. (Source: Journal of Neurology)
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Seed amplification assay results illustrate discrepancy in Parkinson ’s disease clinical diagnostic accuracy and error rates
This study compares results from αSyn-SAA validation testing performed using well-characterized cohorts from two biorepositories to better understand the accuracy of PD clinical diagnosis. Blinded cerebrospinal fluid (CSF) specimens from a repository that included cohorts of subjects cl inically diagnosed as PD or healthy controls, both with confirmatory dopamine transporter single-photon emission computed tomography (DAT SPECT) imaging, and blinded CSF specimens from a repository that included cohorts of subjects clinically diagnosed as PD or healthy controls based on clinical dia gnosis alone, were tested as part of the...
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review
AbstractAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the degeneration of both upper and lower motoneurons, leading to motor and non-motor symptoms. Recent evidence suggests that ALS is indeed a multisystem disorder, associated with cognitive impairment, dysautonomia, pain and fatigue, excess of secretions, and sensory symptoms. To evaluate whether sensory neuropathy could broaden its spectrum, we systematically reviewed its presence and characteristics in ALS, extracting data on epidemiological, clinical, neurophysiological, neuropathological, and genetic features. Sensory neuro...
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Volumetric changes and clinical trajectories in Parkinson ’s disease: a prospective multicentric study
ConclusionBrain volumetric characteristics at baseline may predict clinical trajectories at 1 year in PD as posterior cingulate cortex atrophy was associated with motor decline, while amygdala and hippocampus atrophy were associated with psycho-behavioral decline. (Source: Journal of Neurology)
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Cortical somatosensory evoked potential amplitudes and clinical outcome after cardiac arrest: a retrospective multicenter study
AbstractObjectiveBilaterally absent cortical somatosensory evoked potentials (SSEPs) reliably predict poor outcome in comatose cardiac arrest (CA) patients. Cortical SSEP amplitudes are a recent prognostic extension; however, amplitude thresholds, inter-recording, and inter-rater agreement remain uncertain.MethodsIn a retrospective multicenter cohort study, we determined cortical SSEP amplitudes of comatose CA patients using a standardized evaluation pathway. We studied inter-recording agreement in repeated SSEPs and inter-rater agreement by four raters independently determining 100 cortical SSEP amplitudes. Primary outcom...
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
Interaction of sex and onset site on the disease trajectory of amyotrophic lateral sclerosis
ConclusionUsing a multivariable disease modelling approach, we showed that sex and onset site are important drivers of the progression of motor function, BMI, and FVC decline. (Source: Journal of Neurology)
Source: Journal of Neurology - November 9, 2023 Category: Neurology Source Type: research
