GSE261654 Frataxin Deficiency Drives a Shift from Mitochondrial Metabolism to Glucose Catabolism, Triggering an Inflammatory Phenotype in Microglia (scRNA-Seq)
This study highlights the effects of mitochondrial frataxin (FXN) depletion, which causes Friedreich's ataxia (FRDA), a neurodegenerative condition characterized by coordination and muscle control deficiencies. Using single-cell RNA sequencing, we identified specific cell groups in the cerebellum of a FRDA mouse model, emphasizing a notable inflammatory microglial response. These FXN-deficient microglia cells exhibited enhanced inflammatory reactions. Furthermore, our metabolomic analyses revealed increased glycolysis and itaconate production in these cells, possibly driving the inflammation. Remarkably, butyrate treatment...
Source: GEO: Gene Expression Omnibus - April 16, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE261653 Frataxin Deficiency Drives a Shift from Mitochondrial Metabolism to Glucose Catabolism, Triggering an Inflammatory Phenotype in Microglia (bulk RNA-Seq)
This study highlights the effects of mitochondrial frataxin (FXN) depletion, which causes Friedreich's ataxia (FRDA), a neurodegenerative condition characterized by coordination and muscle control deficiencies. Using single-cell RNA sequencing, we identified specific cell groups in the cerebellum of a FRDA mouse model, emphasizing a notable inflammatory microglial response. These FXN-deficient microglia cells exhibited enhanced inflammatory reactions. Furthermore, our metabolomic analyses revealed increased glycolysis and itaconate production in these cells, possibly driving the inflammation. Remarkably, butyrate treatment...
Source: GEO: Gene Expression Omnibus - April 16, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classicalTBP allelic ranges. (Source: Neurogenetics)
Source: Neurogenetics - April 16, 2024 Category: Genetics & Stem Cells Source Type: research
Cerebellar blood perfusion is a diagnostic, but not a prognostic, marker for parkinsonian-dominant type multiple system atrophy.
Multiple system atrophy (MSA) is clinically characterized by various neurological symptoms. According to the diagnostic criteria, MSA is classified into parkinsonian-dominant type (MSA-P) or cerebellar ataxia-dominant type (MSA-C) based on the predominant signs displayed. Recently, N-isopropyl-p-[123I] iodoamphetamine (123I-IMP) single-photon emission computed tomography (SPECT), a radiological examination evaluating brain perfusion, has been successful in detecting cerebellar hypoperfusion in MSA-P patients, demonstrating its utility in the early detection of cerebellar dysfunction. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 16, 2024 Category: Neurology Authors: Kenta Shiina, Taiji Tsunemi, Nobutaka Hattori Source Type: research
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classicalTBP allelic ranges. (Source: Neurogenetics)
Source: Neurogenetics - April 16, 2024 Category: Genetics & Stem Cells Source Type: research
Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy
We present three sisters with AGel amyloidosis, illustrating its clinical diversity. Patient 1, a 51-year-old, had bilateral ptosis, ocular discomfort, and dry eye syndrome due to cranial nerve involvement. Patient 2, a 53-year-old, experienced progressive bilateral visual impairment. Patient 3, a 50-year-old, exhibited right eye ectropion. Genetic analysis, with the identical mutation, heterozygous c.640G > A (p.Asp214Asn) mutation, confirmed AGel amyloidosis diagnoses, with common findings including lattice corneal amyloidosis, reduced corneal sensitivity, and recurrent corneal erosions. Neurological manifestations in...
Source: European Journal of Ophthalmology - April 15, 2024 Category: Opthalmology Authors: Caio Brenno Abreu B árbara Flores Culau Merlo Vin ícius da Silva Varandas Juliana de S á Freire Medrado Dias Source Type: research
Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data
Expert Opin Pharmacother. 2024 Apr 15. doi: 10.1080/14656566.2024.2343782. Online ahead of print.ABSTRACTINTRODUCTION: Friedreich ataxia (FRDA) is a rare autosomal recessive disease, marked by loss of coordination as well as impaired neurological, endocrine, orthopedic, and cardiac function. There are many symptomatic medications for FRDA, and many clinical trials have been performed, but only one FDA-approved medication exists.AREAS COVERED: The relative absence of the frataxin protein (FXN) in FRDA causes mitochondrial dysfunction, resulting in clinical manifestations. Currently, the only approved treatment for FRDA is a...
Source: Expert Opinion on Pharmacotherapy - April 15, 2024 Category: Drugs & Pharmacology Authors: Katherine Gunther David R Lynch Source Type: research
Diagnostic value of 18F-fluorodeoxyglucose positron emission tomography/computed tomography imaging in pediatric opsoclonus myoclonus ataxia syndrome presenting with neuroblastoma
ConclusionIn patients with OMAS,18F-FDG PET/CT has a high diagnostic accuracy in detecting tumors of the neuroblastoma, especially when combined with the independent risk factor serum lactate dehydrogenase.Graphical abstract (Source: Pediatric Radiology)
Source: Pediatric Radiology - April 13, 2024 Category: Radiology Source Type: research
Significant improvement in paraneoplastic neurological syndromes without identifiable anti-neural antibodies in patients with breast cancer after breast surgery
We report a case in which neurological symptoms significantly improved after surgical treatment for breast cancer. The patient was a 78-years-old woman with subacute progressive cerebellar ataxia. A subsequent diagnosis of breast cancer led to the diagnosis of “PNS probable”. A comprehensive search for anti-neural antibodies was negative in all cases. The quantitative index of the Scale for the Assessment and Rating of Ataxia (SARA) score, a standard evaluation method for ataxia in spinocerebellar degeneration, improved after breast cancer surgery. Th is case may provide a rationale for treating breast cancer patients ...
Source: International Cancer Conference Journal - April 13, 2024 Category: Cancer & Oncology Source Type: research
Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
Rev Neurol (Paris). 2024 Apr 11:S0035-3787(24)00486-7. doi: 10.1016/j.neurol.2024.03.007. Online ahead of print.ABSTRACTGenetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also b...
Source: Revue Neurologique - April 12, 2024 Category: Neurology Authors: G Cl ément S Puisieux D Pellerin B Brais C Bonnet M Renaud Source Type: research
Long-term performance of show-jumping horses and relationship with severity of ataxia and complications associated with myeloencephalopathy caused by equine herpes virus-1
CONCLUSIONS AND CLINICAL IMPORTANCE: Horses affected by EHM were able to return to their previous performance levels, but certain clinical variables were negatively associated with postoutbreak performance. Ataxia grade upon admission and the development of systemic signs of vasculitis and urinary complications were potential poor prognostic indicators in sport horses. Variables linked to fatality included prior vaccination against EHV-1, ataxia grade upon admission, and the development of urinary complications.PMID:38609161 | DOI:10.1111/jvim.17070 (Source: Herpes)
Source: Herpes - April 12, 2024 Category: Infectious Diseases Authors: Mar ía de la Cuesta-Torrado Ana Velloso Alvarez Patricia Neira-Egea Juan Cuervo-Arango Source Type: research
Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
Rev Neurol (Paris). 2024 Apr 11:S0035-3787(24)00486-7. doi: 10.1016/j.neurol.2024.03.007. Online ahead of print.ABSTRACTGenetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also b...
Source: Revue Neurologique - April 12, 2024 Category: Neurology Authors: G Cl ément S Puisieux D Pellerin B Brais C Bonnet M Renaud Source Type: research
Clinical characteristics of BRAT1-related disease: a systematic literature review
ConclusionsThis is the first comprehensive systematic review to present quantitative data about clinical characteristics of BRAT1-related disease, which helps doctors to recognize and diagnose it easier. (Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - April 12, 2024 Category: Neurology Source Type: research
Spinocerebellar ataxia subtype 40: Report of a case and review of literature
Spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders and are clinically and genetically heterogeneous. Based on the genetic variation, SCAs are grouped into three main categories: i. SCAs caused by expansion of trinucleotides (CAG/polyQ) repeats in the coding region of genes, ii. SCAs caused by repetitive amplification of non-coding regions, and ii. SCAs caused by conventional sequence variants [1]. SCA40 (OMIM # 616053), which is one of the recently described types of autosomal dominant (AD) SCA, belongs to the third category and is caused by heterozygous pathogenic variants in the CCDC88C gene (OMIM *...
Source: Parkinsonism and Related Disorders - April 11, 2024 Category: Neurology Authors: Gautam Kale, Prajnya Rangnathan, Pradeep Divate, M.K. Murthy Jagarlapudi Tags: Correspondence Source Type: research
