Clin. Transl. Neurosci., Volume 8, Issue 4 (December 2024) – 4 articles

Background: Traumatic brain injury (TBI) is referred to as a “silent epidemic” due to its limited awareness in the general public. Nevertheless, it can cause chronic, lifelong physical and cognitive impairments with severe impact on quality of life, resulting in high healthcare costs and loss of employment. To evaluate the outcome after mild and moderate TBI, “return to work (RTW)” is a relevant parameter, reflecting the socio-economic consequences of TBI. Our study aims to summarize RTW-rates to raise awareness on the impact of non-severe TBI. Methods: We performed a systematic literature review screening the databases Medline, Embase and Web of Science for studies reporting RTW in mild to moderate TBI. Studies that reported on RTW after mild or moderate TBI (defined by GCS > 9) in adults, with a minimum follow-up of six months were included. Risk of bias was assessed using the QUIPS tool. Results: We included 13 studies with a total 22,550 patients. The overall RTW rate after at least six months, varies between 37% and 98%. Full RTW is reported in six of the included 13 studies and varies between 12% and 67%. In six studies (46%) the RTW-rate by the end of follow-up was ≤60%, with four studies being from high-income countries. Conclusion: Mild and moderate TBI have a high impact on employment rates with diverging rates for RTW even between high-income countries. Increasing the societal awareness of this silent epidemic is of utmost importance and is one of the missions of the Swiss Brain Health Plan. Full article

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder primarily presenting in pediatric patients, with onset after 40 years being exceptionally rare (1–6%). Here, we report a complex diagnostic journey of a 47-year-old male presenting with new-onset seizures, hemiparesis, and neurocognitive deficits. Initial work-up, including MRI, CSF analysis, and extensive antibody screening, yielded inconclusive results, prompting differential considerations such as autoimmune encephalitis and neoplastic conditions. Finally muscle biopsy findings, coupled with genetic confirmation of the m.3243A>G mutation in the MT-TL1 gene, ultimately established the diagnosis of MELAS. This case depicts the atypical presentation of adult-onset MELAS without initial lactic acidemia, diabetes, or hearing impairment. The prolonged diagnostic process underscores the challenges of identifying rare diseases under today’s financial and administrative constraints. Still ee emphasize the importance of comprehensive diagnostics in rare cases to advance generall understanding and improve future patient outcomes, also amidst resource limitations. Full article

An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the FGF14 GAA repeat expansion in 52 patients with unsolved late-onset cerebellar ataxia. Brain MRI and nerve conduction study, as well as video-oculographic (VOG) assessment, were performed. Eight patients (15.4%) with pathogenic GAA repeat expansion in the FGF14 gene were found. The median age at onset was 51 years (range—23–63 years). Sensory axonal neuropathy was found in 5/8 patients. Cerebellar atrophy was observed in 5/8 patients, and in one case, pontocerebellar atrophy was found. All tested patients had impaired smooth pursuit, 5/6 patients had impaired vestibulo-ocular reflex suppression, nystagmus, and an increased number of square wave jerks, 4/6 patients had horizontal gaze-evoked nystagmus, 3/6 had spontaneous downbeat nystagmus, and 1/6 had an upbeat one. Video head impulse test gain was lower than 0.8 on both sides in 2/4 patients, along with the presence of overt saccades. Further studies in different cohorts are needed to complete the phenotype of the FGF14-related disorders. Full article

The Glasgow Coma Scale (GCS) is essential for assessing traumatic brain injury and predicting patient outcomes, yet studies indicate that nurses often have only a basic understanding of the GCS. In Saudi Arabia, research on this topic is limited, suggesting a need for improvement in nurses’ GCS knowledge. This study aimed to evaluate the knowledge and proficiency of 199 staff nurses at King Fahd Medical City in Riyadh, Saudi Arabia, regarding GCS usage and to identify the factors impacting their competence. A descriptive, cross-sectional survey was conducted, and the data were analyzed using SPSS version 23.0. The results showed that 81.4% of nurses had an average level of GCS knowledge, with a mean score of 8.8 ± 1.826. Only 13.6% demonstrated good knowledge, while 5% had poor knowledge. A significant correlation was found between GCS knowledge and nurses’ departments (χ2(2) = 19.184, p < 0.001). The study concludes that GCS knowledge among nurses in this Saudi Arabian center is moderate, highlighting the need for continuous education programs to enhance their competence in GCS assessment. Full article