Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
Conclusion
RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Wu, C., Zhang, Z. Tags: Neurogenetics Source Type: research
Sensors, Vol. 24, Pages 2586: Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation
O’Keefe
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait and increase fall risk. Dual-tasking (DT) cognitive-motor paradigms and challenging balance conditions may have the capacity to reveal markers of FXTAS onset. Our objectives were to determine the impact of dual-tasking and sensory and stance manipulation on balance in FXTAS and potentially detect subtle postural sway deficits in FMR1 PMCs who are asymptomatic for...
Source: Sensors - April 18, 2024 Category: Biotechnology Authors: Emily C. Timm Nicollette L. Purcell Bichun Ouyang Elizabeth Berry-Kravis Deborah A. Hall Joan Ann O ’Keefe Tags: Article Source Type: research
Genes, Vol. 15, Pages 508: Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Conclusion: Our work confirms clinical variability also in the ERCC6/CSB type, where manifestations may range from severe involvement with prenatal or neonatal onset to normal psychomotor development followed by progressive ataxia. We propose, for the first time in CS, sNFL as a useful peripheral biomarker, with increased levels compared to currently available reference values and with the potential ability to reflect disease severity. (Source: Genes)
Source: Genes - April 18, 2024 Category: Genetics & Stem Cells Authors: Jacopo Sartorelli Lorena Travaglini Marina Macchiaiolo Giacomo Garone Michaela Veronika Gonfiantini Davide Vecchio Lorenzo Sinibaldi Flaminia Frascarelli Viola Ceccatelli Sara Petrillo Fiorella Piemonte Gabriele Piccolo Antonio Novelli Daniela Longo Stefa Tags: Article Source Type: research
Gastrointestinal disorders in hyperkinetic movement disorders and ataxia
Nervenarzt. 2024 Apr 17. doi: 10.1007/s00115-024-01655-z. Online ahead of print.ABSTRACTDisorders of the gastrointestinal tract in patients suffering from hypokinetic movement disorders, and in particular Parkinson's disease, have increasingly been the subject of more intensive neuromedical research. So far, few data are available for patients with hyperkinetic movement disorders and ataxias. This review article summarizes the currently available and relevant publications on this topic. The particular focus is on essential tremor, restless legs syndrome, Huntington's disease and the group of hereditary ataxias. Further int...
Source: Der Nervenarzt - April 17, 2024 Category: Neurology Authors: Inga Claus Tobias Warnecke Source Type: research
RFC1: Motifs and phenotypes
Rev Neurol (Paris). 2024 Apr 15:S0035-3787(24)00484-3. doi: 10.1016/j.neurol.2024.03.006. Online ahead of print.ABSTRACTBiallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes a...
Source: Revue Neurologique - April 16, 2024 Category: Neurology Authors: V Delforge C Tard J-B Davion K Dujardin A Wissocq C-M Dhaenens E Mutez V Huin Source Type: research
GSE261655 Frataxin Deficiency Drives a Shift from Mitochondrial Metabolism to Glucose Catabolism, Triggering an Inflammatory Phenotype in Microglia
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
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
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
