Posterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome: A Case Report.

Objectives: Atypical variants are rare in genetically determined Alzheimer disease (AD). This case describes a patient with Down syndrome-associated Alzheimer disease (DSAD) who presented with symptoms of posterior cortical atrophy (PCA).

Methods: We conducted a clinical and cognitive evaluation, genotyping, determination of AD biomarkers in CSF, structural MRI, [18F]FDG-PET, and tau-PET ([18F]PI2620) scans.

SREBP1c-Mediated Transcriptional Repression of YME1L1 Contributes to Acute Kidney Injury by Inducing Mitochondrial Dysfunction in Tubular Epithelial Cells.

Acute kidney injury (AKI) is a prevalent clinical syndrome with high morbidity and mortality. Accumulating studies suggest mitochondrial dysfunction as the typical characteristics and key process of AKI, but the underlying mechanism remains elusive. The YME1-like 1 (YME1L1) ATPase, an inner mitochondrial membrane protein, is screened and identified to be downregulated in renal tubular epithelial cells of various mouse models and patients of AKI.

Oral supplementation with Nicotinamide Riboside treatment protects RGCs in DBA/2J mouse model.

Purpose: The aim of this study was to test whether oral administration of nicotinamide riboside (NR), the nicotinamide adenine dinucleotide (NAD+) precursors, protect retina ganglion cells (RGCs) from neurodegeneration in DBA/2J (D2) mice, which is a widely used mouse model of age-related inherited glaucoma.

Method: Oral NR or NAM administration (NR low dose: 1150mg/kg; NR high dose: 4200mg/kg; NAM low dose group: 500mg/kg; NAM high dose: 2000mg/kg of body weight per day) essentially started when D2 mice were 4 or 9 months old and continued up to 12 months old. Control cohort identically received food/water without NAM or NR.

Prohibitin 1 tethers lipid membranes and regulates OPA1-mediated membrane fusion.

Prohibitins (PHBs) are ubiquitously expressed proteins in the mitochondrial inner membrane (MIM) that provide membrane scaffolds for both mitochondrial proteins and phospholipids. Eukaryotic PHB complexes contain two highly homologous PHB subunits, PHB1 and PHB2, which are involved in various cellular processes, including metabolic control through the regulation of mitochondrial dynamics and integrity. Their mechanistic actions at the molecular level, however, particularly those of PHB1, remain poorly understood.

Children with MOG-IgG positive bilateral optic neuritis misdiagnosed as fulminant idiopathic intracranial hypertension.

Background: Fulminant idiopathic intracranial hypertension (IIH) is characterized by headache, rapid decrease of vision and elevated CSF-opening pressure.

Objective: To delineate a subgroup of MOGAD mimicking fulminant IIH.

Methods: In this case series children with MOGAD with vision loss, optic disc swelling and elevated CSF opening pressure, initially diagnosed with fulminant IIH, were included.

Axial elongation in nonpathologic high myopia: Ocular structural changes and glaucoma diagnostic challenges.

Axial elongation continues in highly myopic adult eyes, even in the absence of pathologic changes such as posterior staphyloma or chorioretinal atrophy. This ongoing axial elongation leads to structural changes in the macular and peripapillary regions, including chorioretinal thinning, reduced vascular perfusion and optic disc tilting and rotation, among others. These alterations can affect the acquisition and interpretation of optical coherence tomography, optical coherence tomography angiography and fundus photographs, potentially introducing artifacts and diminishing the accuracy of glaucoma diagnosis in highly myopic eyes.

Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.

Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.

Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.

Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Background: Carbonic anhydrase type II deficiency (CAII-D) syndrome is a rare autosomal recessive genetic disorder characterized by osteopetrosis, renal tubular acidosis, and brain calcifications. Understanding the clinical and radiological features of CAII-D is key to effective management.

Aim: This study aimed to comprehensively analyze and measure intracranial parenchymal calcium score in pediatric CAII-D in relation to the severity of neurological clinical presentation.

Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome.

Wolfram syndrome (WS) is a rare condition caused by homozygous or compound heterozygous mutations in the WFS1 gene primarily. It is diagnosed on the basis of early-onset diabetes mellitus and optic nerve atrophy. Patients complain of trigeminal-like migraines and show deficits in vibration sensation, but the underlying cause is unknown.

Optical coherence tomography in multiple sclerosis: A Tunisian tertiary center study.

Purpose: To study retinal layers on OCT in patients with multiple sclerosis (MS) and look for correlations with clinical and electrophysiological characteristics.

Methods: We conducted a cross-sectional study including MS patients aged between 18 and 60 years and a reference group of healthy, age- and gender-matched, control participants. A neurological examination with assessment of disability by the Expanded Disability Status Scale (EDSS), an ophthalmological examination, a spectral-domain OCT, and visual evoked potentials (VEP) were performed.

Opa1 and MT-Nd6 mutations induce early mitochondrial changes in the retina and prelaminar optic nerve of hereditary optic neuropathy mouse models.

Hereditary optic neuropathies, including dominant optic atrophy and Leber's hereditary optic neuropathy, are genetic disorders characterized by retinal ganglion cell degeneration leading to vision loss, mainly associated with mitochondrial dysfunction. In this study, we analysed mitochondrial distribution and ultrastructure in the retina and longitudinal optic nerve sections of pre-symptomatic hereditary optic neuropathies mouse models with Opa1 and Nd6 deficiency to identify early mitochondrial changes. Our results show significant mitochondrial fragmentation and increased mitophagy in mice, indicating early mitochondrial changes prior to neuronal loss.

Protein-Variant-Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome.

NBAS gene variants cause phenotypically distinct and nonoverlapping conditions, SOPH syndrome and ILFS2. NBAS is a so-called "moonlighting" protein responsible for retrograde membrane trafficking and nonsense-mediated decay. However, its three-dimensional model and the nature of its possible interactions with other proteins have remained elusive.

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.

Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in Type 2 WS (WS2), there is a distinctive bleeding tendency that is exclusive to WS2, with no documented occurrences in Type 1 WS (WS1).

OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.

Optic atrophy protein 1 (OPA1) mediates inner mitochondrial membrane (IMM) fusion and cristae organization. Mutations in OPA1 cause autosomal dominant optic atrophy (ADOA), a leading cause of blindness. Cells from ADOA patients show impaired mitochondrial fusion, cristae structure, bioenergetic function, and mitochondrial DNA (mtDNA) integrity.

Association of peripapillary retinal nerve fiber layer atrophy with cognitive impairment in patients with neuromyelitis optica spectrum disorder.

Background: We aimed to explore the association between peripapillary retinal nerve fiber layer thickness (pRNFL), macular ganglion cell-inner plexiform layer (mGCIPL), and cognitive impairment (CI) in patients with neuromyelitis optica spectrum disorder (NMOSD).

Method: In this cross-sectional study, 38 (28 aquaporin-4 (AQP4) IgG-seropositive) NMOSD patients and 20 healthy controls (HC) underwent cognitive assessment using Minimal Assessment of Cognitive Function in Multiple Sclerosis (MACFIMS) battery. Spectral-domain optical coherence tomography (OCT) was performed for both eyes of all NMOSD patients.

[Clinical features and genetic analysis of four cases of pediatric acute liver failure caused by gene variants].

To analyze the clinical and genetic features of pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence () gene variants and to investigate the correlation between clinical phenotypes and genotypes. A retrospective analysis was conducted on the clinical data and genetic test results of 4 pediatric patients with gene variants presenting primarily with PALF, who were admitted to the Department of Gastroenterology at the Children's Hospital of Zhejiang University School of Medicine from August 2015 to June 2023. A literature review was performed using the keywords "NBAS", "neuroblastoma amplified sequence", "SOPH", "short stature with optic nerve atrophy and Pelger-Huët anomaly", "liver failure", and "neuroblastoma amplified sequence" in both Chinese and English, searching the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases for articles published from January 2015 to May 2024.