Friedreich\'s ataxia (FRDA), a rare inherited neurodegenerative disease, presents distinctive complexities in obstetrical anesthesia. Available research about FRDA in obstetrics is extremely limited. In this report, the anesthetic management of a 40-year-old primigravida with FRDA undergoing cesarean delivery is presented. An uneventful cesarean delivery with effective epidural anesthesia with ropivacaine at the L2-L3 intervertebral space was performed in our case. Neither hypotension nor bradycardia was observed, and vital signs remained stable, with no need for administration of vasoactive drugs. After discharge, the parturient reported no change in her neurologic symptoms. Conclusive recommendations are contingent upon more extensive studies. Overall management and the choice to proceed with neuraxial anesthesia in a woman with FRDA should be based on comprehensive consultations in both cardio-obstetrics and pre-anesthetic evaluations.

BACKGROUND: The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast differentiation, and disease-associated microglia (DAM) activation to regulate neuroinflammation, and phagocytosis in the brain. Genetic variations in TREM2 are implicated in neurodegenerative disorders, such as Nasu-hakola disease (NHD), characterized by bone lesions, neuropsychiatric disorders, and early-onset dementia.
METHODS: We studied 3 siblings with suspected NHD. Whole-exome sequencing was conducted on the proband to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants in the two other affected siblings, a healthy sister, and the parents.
RESULTS: We identified a novel homozygous deletion (c.549del; p.(Leu184Serfs*5)) in TREM2. Our literature review reveals 16 TREM2 mutations causing early-onset dementia and bone lesions.
CONCLUSIONS: These findings, alongside previous research, elucidate the clinical spectrum of TREM2-related diseases, aiding accurate diagnosis and patient care. This knowledge is vital for understanding TREM2-dependent DAM and its involvement in the pathogenesis of neurodevelopmental disorders which can help to develop targeted therapies and improve outcomes for TREM2-affected individuals.

Positron emission tomography imaging of misfolded proteins with high-affinity and selective radioligands has played a vital role in expanding our knowledge of neurodegenerative diseases such as Parkinson\'s and Alzheimer\'s disease. The pathogenesis of Huntington\'s disease, a CAG trinucleotide repeat disorder, is similarly linked to the presence of protein fibrils formed from mutant huntingtin (mHTT) protein. Development of mHTT fibril-specific radioligands has been limited by the lack of structural knowledge around mHTT and a dearth of available hit compounds for medicinal chemistry refinement. Over the past decade, the CHDI Foundation, a non-for-profit scientific management organisation has orchestrated a large-scale screen of small molecules to identify high affinity ligands of mHTT, with lead compounds now reaching clinical maturity. Here we describe the mHTT radioligands developed to date and opportunities for further improvement of this radiotracer class.

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic disease with no recognizable pattern of transmission. Sporadic CJD (sCJD) can present with rapid cognitive and functional decline, memory deficits, myoclonus, pyramidal and extrapyramidal signs, and visual deficits. The large spectrum of phenotypic variability has made the recognition of prion diseases difficult, and given the rare incidence, it is not uncommon for it to be missed as a potential diagnosis. We present a highly unusual case of a 76-year-old woman with rapidly progressive sCJD who died within five weeks of presentation. Our case demonstrates a typical sequence of symptoms, with rapidly progressive dementia and cerebellar signs at disease onset and myoclonus later in the disease course.

Tay-Sachs disease (TSD) is a rare, fatal neurodegenerative disorder characterized by the deficiency of the enzyme hexosaminidase-A (Hex A), which results in the accumulation of monosialoganglioside2 (GM2) ganglioside within nerve cells, predominantly affecting individuals of Ashkenazi Jewish descent. We report a remarkable case of a three-year-old South Asian male with infantile GM2 gangliosidosis, compounded by bronchopneumonia, a rarely documented complication in Tay-Sachs patients. The patient presented with recurrent seizures, fever, cough, and developmental delay. Confirmation of the diagnosis was obtained through reduced Hex A enzyme activity, corroborated by imaging and blood and urine analyses. Family history was significant for consanguinity and similar sibling fatalities. Despite the progressive nature of the disease, symptomatic management, including antiepileptic drugs, antibiotic therapy, and supportive care, led to an improvement in clinical condition, though ongoing monitoring remains essential. In this case, the coexistence of bronchopneumonia with Tay-Sachs disease is unusual, reflecting the necessity for this case report. The patient\'s response highlights the potential for symptomatic management, the importance of genetic counseling, and the imperative for research into gene and enzyme replacement therapies. The uniqueness of this case provides novel insights into the disease\'s spectrum, enhancing awareness, encouraging early diagnosis, and refining care strategies for Tay-Sachs disease, aligning with the broader goals of improving patient outcomes and advancing medical research.

Atypical Parkinsonian syndromes are a subset of progressive neurodegenerative disorders that present with signs of Parkinson\'s disease. However, due to multisystem degeneration, the atypical Parkinsonian syndromes have additional symptoms that are often referred to as Parkinson-plus syndromes. The most well-studied subsets include progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and Lewy body dementia. Specifically, progressive supranuclear palsy is a tauopathy neurodegenerative disorder that presents with parkinsonism symptoms along with postural instability, vertical saccade, and vertical gaze palsy. Here, we present a case of PSP and provide a brief review of the literature.

Balo\'s concentric sclerosis (BCS) is a rare demyelinating disorder of the central nervous system (CNS). Distinguishing BCS from other demyelinating disorders such as multiple sclerosis (MS) or from neoplasms can be difficult clinically; however, MRI aids in the identification of the disease. We describe the case of a 37-year-old female presenting with sudden onset of neurologic symptoms associated with a solitary rounded white-matter lesion suggestive of BCS. This rare disorder can present with heterogenous symptoms, imaging findings, and response to treatment. Furthermore, more in-depth analysis of the presentations and treatment outcomes of BCS are necessary in order to create a more robust plan of care.

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Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins. A few of these neurodegenerative diseases have been associated with degeneration of the transverse pontocerebellar tracts and median pontine raphe nuclei. This specific neuron degeneration results in the radiologic hot cross bun sign (HCBS) on MRI T2 imaging and helps narrow down the differential diagnosis. While multiple system atrophy has a higher prevalence of the HCBS than other neurodegenerative diseases, the sign has also been described with other neurodegenerative disorders such as spinocerebellar ataxia (SCA), and variant Creutzfeldt-Jakob disease. Here, we present a case of spinocerebellar ataxia type 34 with a characteristic hot-cross bun sign and provide a brief review of the literature.

The past three decades have seen multiple reports of people with neurodegenerative disorders, or other forms of changes in their brains, who also show putative changes in how they approach and produce visual art. Authors argue that these cases may provide a unique body of evidence, so-called \'artistic signatures\' of neurodegenerative diseases, that might be used to understand disorders, provide diagnoses, be employed in treatment, create patterns of testable hypotheses for causative study, and also provide unique insight into the neurobiological linkages between the mind, brain, body, and the human penchant for art-making itself. However-before we can begin to meaningfully build from such emerging findings, much less formulate applications-not only is such evidence currently quite disparate and in need of systematic review, almost all case reports and artwork ratings are entirely subjective, based on authors\' personal observations or a sparse collection of methods that may not best fit underlying research aims. This leads to the very real question of whether we might actually find patterns of systematic change if fit to a rigorous review-Can we really \'read\' art to illuminate possible changes in the brain? How might we best approach this topic in future neuroscientific, clinical, and art-related research? This paper presents a review of this field and answer to these questions. We consider the current case reports for seven main disorders-Alzheimer\'s and Parkinson\'s disease, frontotemporal and Lewy body dementia, corticobasal degeneration, aphasia, as well as stroke-consolidating arguments for factors and changes related to art-making and critiquing past methods. Taking the published artworks from these papers, we then conduct our own assessment, employing computerized and human-rater-based approaches, which we argue represent best practice to identify stylistic or creativity/quality changes. We suggest, indeed, some evidence for systematic patterns in art-making for specific disorders and also find that case authors showed rather high agreement with our own assessments. More important, through opening this topic and past evidence to a systematic review, we hope to open a discussion and provide a theoretical and empirical foundation for future application and research on the intersection of art-making and the neurotypical, the changed, and the artistic brain.