GSE215831 Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency [1 month]
Contributors : Yijing Zhou ; Naiara Aquizu-LopezSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusSpinocerebellar Ataxia Autosomal Recessive 20 (SCAR20) is a rare disorder caused by mutation in the SNX14 gene. The symptoms of the disorder including coarse face, poor or lack of speech, delayed or absent of motor function, and most markedly, cerebella atrophy with Purkinje cell degeneration. SNX14 has been localized to ER and shown to play a vital role in facilitating the formation of lipid droplet and maintaining the lipid saturation balance in cell membrane. Meanwhile, it has also bee...
Source: GEO: Gene Expression Omnibus - April 29, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Anti-IgLON5 disease as a differential diagnosis of multiple system atrophy
Anti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) disease is a rare autoimmune encephalitis that can mimic progressive supranuclear palsy or corticobasal syndrome. Moreover, anti-IgLON5 disease can present with symptoms characteristic of multiple system atrophy (MSA), such as cerebellar ataxia and autonomic dysfunction. However, the clinical features of anti-IgLON5 disease resembling MSA have not been well established. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 29, 2024 Category: Neurology Authors: Yoya Ono, Koh Tadokoro, Taijun Yunoki, Toru Yamashita, Daisuke Sato, Hiroyasu Sato, Shintaro Akamatsu, Heisuke Mizukami, Yasuyuki Ohta, Yoshihisa Yamano, Akio Kimura, Shimohata Takayoshi Source Type: research
Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research
AZD1390, an ataxia telangiectasia mutated inhibitor, attenuates microglia-mediated neuroinflammation and ischemic brain injury
CONCLUSION: AZD1390 suppressed NF-κB signaling pathway to alleviate ischemic brain injury in experimental stroke, and attenuated microglia activation and neuroinflammation, which indicated that AZD1390 might be an attractive agent for the treatment of ischemic stroke.PMID:38668740 | PMC:PMC11048048 | DOI:10.1111/cns.14696 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - April 26, 2024 Category: Neuroscience Authors: Zhen Lan Long-Jie Qu Ying Liang Li-Qiu Chen Shuai Xu Jian-Wei Ge Zhi-Wei Xue Xin-Yu Bao Sheng-Nan Xia Hai-Yan Yang Jing Huang Yun Xu Xiao-Lei Zhu Source Type: research
Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research
Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research
Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research
Autoimmune nodopathy
AbstractAutoimmune nodopathy (AN) is characterized by the presence of autoantibodies targeting molecules essential for saltatory conduction in myelinated nerves. Clinical manifestations of AN show similarities with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), including progressive and symmetrical sensorimotor deficits with electrophysiological demyelinating features in nerve conduction studies. Although no common autoantibodies have yet been identified in CIDP, AN is characterized by autoantibodies that primarily target specific molecular complex structures represented by the Ranvier node and paranode....
Source: Clinical and Experimental Neuroimmunology - April 26, 2024 Category: Neurology Authors: Masahiro Iijima Tags: INVITED REVIEW Source Type: research
Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study
CONCLUSIONS: Patients with Friedreich ataxia are at high risk for perioperative complications when undergoing posterior spinal fusion and coordinated multidisciplinary care is required at each stage. Future research should focus on the utility of intraoperative echocardiography, optimal anesthetic agent selection, and targeted fluid management to reduce postoperative cardiac complications.PMID:38655751 | DOI:10.1111/pan.14896 (Source: Paediatric Anaesthesia)
Source: Paediatric Anaesthesia - April 24, 2024 Category: Anesthesiology Authors: Elizabeth M O'Brien Natalie Neiswinter Kimberly Y Lin David Lynch Keith Baldwin Victoria Profeta John M Flynn Wallis T Muhly Source Type: research
Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study
CONCLUSIONS: Patients with Friedreich ataxia are at high risk for perioperative complications when undergoing posterior spinal fusion and coordinated multidisciplinary care is required at each stage. Future research should focus on the utility of intraoperative echocardiography, optimal anesthetic agent selection, and targeted fluid management to reduce postoperative cardiac complications.PMID:38655751 | DOI:10.1111/pan.14896 (Source: Paediatric Anaesthesia)
Source: Paediatric Anaesthesia - April 24, 2024 Category: Anesthesiology Authors: Elizabeth M O'Brien Natalie Neiswinter Kimberly Y Lin David Lynch Keith Baldwin Victoria Profeta John M Flynn Wallis T Muhly Source Type: research
Neuropsychiatric complications of coronavirus disease 2019: Mount Sinai Health System cohort study
ConclusionNeuropsychiatric complications of COVID-19, especially AMS, were common, varied, and associated with in-hospital mortality in a diverse multicenter cohort at an epicenter of the COVID-19 pandemic. (Source: Journal of Neurology)
Source: Journal of Neurology - April 24, 2024 Category: Neurology Source Type: research
Genes, Vol. 15, Pages 529: SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases
In this study, an in silico analysis of polymorphisms and mutations in human Notch family members that lead to neurodegenerative diseases was performed in order to investigate the correlations among Notch family proteins and neurodegenerative diseases. Particular emphasis was placed on the study of mutations in the Notch3 protein and the structure analysis of the mutant Notch3 protein that leads to the manifestation of the CADASIL syndrome in order to spot possible conserved mutations and interpret the effect of these mutations in the Notch3 protein structure. Conserved mutations of cysteine residues may be candidate pharm...
Source: Genes - April 23, 2024 Category: Genetics & Stem Cells Authors: Louis Papageorgiou Lefteria Papa Eleni Papakonstantinou Antonia Mataragka Konstantina Dragoumani Dimitrios Chaniotis Apostolos Beloukas Costas Iliopoulos Erik Bongcam-Rudloff George P. Chrousos Sofia Kossida Elias Eliopoulos Dimitrios Vlachakis Tags: Article Source Type: research
A 24-Year-Old Man With Spastic Ataxia and Hypodontia
A 24-year-old man presented with progressive gait instability, marked spinal cord atrophy, and dental radiography showing the absence of several elements, microdontia, and taurodontia. What is your diagnosis? (Source: JAMA Neurology)
Source: JAMA Neurology - April 22, 2024 Category: Neurology Source Type: research
Superior oblique palsy as the initial manifestation of anti-contactin-1 IgG4 autoimmune nodopathy: A case report
We report a case of anti-contactin-1 neuropathy initially manifesting as isolated superior oblique palsy, aiming to broaden the clinical spectrum of the disease. A 68-year-old male with well-controlled diabetes, hypertension, and hyperlipidemia developed acute binocular vertical diplopia, progressing over two months to include distal paresthesia, sensory ataxia, ageusia, and dysarthria. (Source: Journal of Neuroimmunology)
Source: Journal of Neuroimmunology - April 22, 2024 Category: Allergy & Immunology Authors: Young Gi Min, Woohee Ju, Jung-Joon Sung Tags: Short Communication Source Type: research
Neurocognitive impairment in patients with Ataxia Telangiectasia and their unaffected parents: Is it similar?
This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 21, 2024 Category: Neurology Authors: Emel Uyar, Hacer Akturk, Sevil Usanmaz, Ayca Kiykim, Ali Evren Tufan, Hande Alibas, Omer Aydiner, Ayper Somer, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner Tags: Research Paper Source Type: research
