Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
ConclusionsFGF14 (GAA)≥250 expansion may account for MSA look-alike cases and should be screened among slow progressors. (Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2024 Category: Neurology Source Type: research
Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy
AbstractWe evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected includedNPRL3 (3 patients, all related),TSC2 ...
Source: Journal of Neurology - January 23, 2024 Category: Neurology Source Type: research
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
ConclusionsPeripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion. (Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2024 Category: Neurology Source Type: research
Identifying the mediating role of inflammation on the relationship between socioeconomic status and Alzheimer ’s disease: a Mendelian randomization analysis and mediation analysis
DiscussionThese findings provided evidence supporting the causal effect of educational attainment lower AD risk, with inflammation playing a mediating role. These findings may inform prevention strategies and interventions directed toward AD. Future studies should explore other plausible biological mechanisms. (Source: Journal of Neurology)
Source: Journal of Neurology - January 22, 2024 Category: Neurology Source Type: research
Real-world evidence of epidemiology, patient characteristics, and mortality in people with drug-resistant epilepsy in the United Kingdom, 2011 –2021
ConclusionsConsiderable disease burden was observed in people with DRE in the UK. The findings emphasise the importance of early DRE diagnosis and appropriate disease management in people who develop DRE. (Source: Journal of Neurology)
Source: Journal of Neurology - January 19, 2024 Category: Neurology Source Type: research
Multisensory hallucinations and other unusual sensory experiences in the context of migraine: a systematic review
ConclusionOur findings provide preliminary evidence that multisensory hallucinations and other unusual perceptual experiences in migraine are likely more common than previously believed. Further investigations are needed to appropriately account for these symptoms within current nosological systems. Increased clinician –patient awareness is important for managing distress (where necessary), and potentially for offering a holistic therapeutic approach to migraine management. (Source: Journal of Neurology)
Source: Journal of Neurology - January 18, 2024 Category: Neurology Source Type: research
Ultra-late response ( & gt; 24 weeks) to anti-CGRP monoclonal antibodies in migraine: a multicenter, prospective, observational study
ConclusionTwo-thirds of patients not responding to anti-CGRP mAbs ≤ 24 weeks do respond later, whilenon-responders ≤ 48 weeks are quite rare (8.7%). These findings suggest to rethink the duration of migraine prophylaxis and the definition of resistant and refractory migraine, currently based on the response after 2–3 months of treatment. (Source: Journal of Neurology)
Source: Journal of Neurology - January 17, 2024 Category: Neurology Source Type: research
Guillain –Barré syndrome and COVID-19 vaccination: a systematic review and meta-analysis
ConclusionsAdenovirus-vectored vaccines showed a 2.4 times increased risk of GBS that was about seven times higher compared with mRNA-based vaccines. The decreased GBS risk associated with mRNA vaccines was possibly due to an elicited reduction of infections, including SARS-CoV-2, associated with GBS during the vaccination period. How adenovirus-vectored COVID-19 vaccines may trigger GBS is unclear and further studies should investigate the relationship between vaccine technologies and GBS risk. (Source: Journal of Neurology)
Source: Journal of Neurology - January 17, 2024 Category: Neurology Source Type: research
Etiologic distribution of dizziness/vertigo in a neurological outpatient clinic according to the criteria of the international classification of vestibular disorders: a single-center study
Conclusion(1) Dizziness/vertigo was more common in females, which was frequently caused by damage to the vestibular system. Non-vestibular or unknown etiologies were also seen in some patients; (2) VM was more prevalent in women than in men, vascular vertigo/dizziness was more commonly observed in men; (3) EVS was more common in patients with dizziness/vertigo. The most common causes of dizziness/vertigo were peripheral vestibular disorders in patients with AVS and EVS, PPPD and psychogenic dizziness in patients with CVS. The most common causes were BPPV and p-UPVD of unknown etiology in patients with a peripheral vestibul...
Source: Journal of Neurology - January 17, 2024 Category: Neurology Source Type: research
Serum calcitonin gene-related peptide in patients with persistent post-concussion symptoms, including headache: a cohort study
This study investigates serum CGRP levels in patients with persistent post-concussion symptoms (PPCS), including PTH.MethodsThis cohort study was based on serum samples from individuals aged 18 –30 years with PPCS who participated in a previously published randomized controlled trial of a non-pharmacological intervention. The primary outcome was serum CGRP concentrations, determined at baseline before randomization and at follow-up 7 months later, using an enzyme-linked immunosorbent a ssay (ELISA). CGRP levels at baseline were compared with healthy anonymous blood donors in the same age group.ResultsBaseline serum sam...
Source: Journal of Neurology - January 17, 2024 Category: Neurology Source Type: research
Novel biomarkers and neuroimaging techniques in Parkinson ’s disease
(Source: Journal of Neurology)
Source: Journal of Neurology - January 17, 2024 Category: Neurology Source Type: research
Experiences of people with multiple sclerosis and clinicians in using cognitive behavioural therapies for hidden symptoms: a systematic review and meta-aggregation
ConclusionsA range of benefits including psychological, social, and lifestyle improvements were reported, but varied based on the design of the CBT intervention. Future CBT interventions should be tailored to participant needs, delivered in group settings, offer online options, and be delivered by a trained facilitator familiar with MS. Further exploration of the ideal CBT design for PwMS, as well as engagement with caregivers and clinicians treating MS, is warranted. (Source: Journal of Neurology)
Source: Journal of Neurology - January 14, 2024 Category: Neurology Source Type: research
Associations between olfactory dysfunction and cognition: a scoping review
ConclusionMost studies demonstrate a positive correlation between OD and cognition, but the data are mixed with associations less robust in this young adult population compared to elderly adults. Despite the heterogeneity in study populations and outcomes, this scoping review serves as a starting point for further investigation on this topic. Notably, as many studies in this review involved disorders that may have confounding effects on both olfaction and cognition, future research should control for these confounders and incorporate non-elderly individuals with non-psychiatric causes of smell loss. (Source: Journal of Neurology)
Source: Journal of Neurology - January 13, 2024 Category: Neurology Source Type: research
Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review
ConclusionsICH is a relatively rare manifestation of CADASIL, occurring in about 2% of symptomatic cases. Most of the haemorrhages occurred in the subcortical regions. (Source: Journal of Neurology)
Source: Journal of Neurology - January 13, 2024 Category: Neurology Source Type: research
Prognosis of impulse control disorders in Parkinson ’s disease: a prospective controlled study
ConclusionICDs were associated with increased psychiatric burden at baseline and better cognitive prognosis. Most patients were still showing ICDs at the follow-up visit, suggesting ICD to be considered as a chronic, neuropsychiatric disorder. (Source: Journal of Neurology)
Source: Journal of Neurology - January 12, 2024 Category: Neurology Source Type: research
