Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
Neurobiol Dis. 2024 Mar 5:106467. doi: 10.1016/j.nbd.2024.106467. Online ahead of print.ABSTRACTMutations in the gene encoding MFN2 have been identified as associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated its participation in a network crucial for various other mitochondrial functions, including mitophagy, axonal transport, and its cont...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Claudia Alberti Federica Rizzo Alessia Anastasia Giacomo Comi Stefania Corti Elena Abati Source Type: research
Free water in gray matter linked to gut microbiota changes with decreased butyrate producers in Alzheimer's disease and mild cognitive impairment
Neurobiol Dis. 2024 Mar 5;193:106464. doi: 10.1016/j.nbd.2024.106464. Online ahead of print.ABSTRACTNeuroinflammation contributes to the pathology and progression of Alzheimer's disease (AD), and it can be observed even with mild cognitive impairment (MCI), a prodromal phase of AD. Free water (FW) imaging estimates the extracellular water content and has been used to study neuroinflammation across several neurological diseases including AD. Recently, the role of gut microbiota has been implicated in the pathogenesis of AD. The relationship between FW imaging and gut microbiota was examined in patients with AD and MCI. Fift...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Kazuo Yamashiro Kaito Takabayashi Koji Kamagata Yuichiro Nishimoto Yuka Togashi Yohsuke Yamauchi Kotaro Ogaki Yuanzhe Li Taku Hatano Yumiko Motoi Michimasa Suzuki Koichi Miyakawa Dai Ishikawa Shigeki Aoki Takao Urabe Nobutaka Hattori Source Type: research
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
Neurobiol Dis. 2024 Mar 5:106467. doi: 10.1016/j.nbd.2024.106467. Online ahead of print.ABSTRACTMutations in the gene encoding MFN2 have been identified as associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated its participation in a network crucial for various other mitochondrial functions, including mitophagy, axonal transport, and its cont...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Claudia Alberti Federica Rizzo Alessia Anastasia Giacomo Comi Stefania Corti Elena Abati Source Type: research
Free water in gray matter linked to gut microbiota changes with decreased butyrate producers in Alzheimer's disease and mild cognitive impairment
Neurobiol Dis. 2024 Mar 5;193:106464. doi: 10.1016/j.nbd.2024.106464. Online ahead of print.ABSTRACTNeuroinflammation contributes to the pathology and progression of Alzheimer's disease (AD), and it can be observed even with mild cognitive impairment (MCI), a prodromal phase of AD. Free water (FW) imaging estimates the extracellular water content and has been used to study neuroinflammation across several neurological diseases including AD. Recently, the role of gut microbiota has been implicated in the pathogenesis of AD. The relationship between FW imaging and gut microbiota was examined in patients with AD and MCI. Fift...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Kazuo Yamashiro Kaito Takabayashi Koji Kamagata Yuichiro Nishimoto Yuka Togashi Yohsuke Yamauchi Kotaro Ogaki Yuanzhe Li Taku Hatano Yumiko Motoi Michimasa Suzuki Koichi Miyakawa Dai Ishikawa Shigeki Aoki Takao Urabe Nobutaka Hattori Source Type: research
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
Neurobiol Dis. 2024 Mar 5:106467. doi: 10.1016/j.nbd.2024.106467. Online ahead of print.ABSTRACTMutations in the gene encoding MFN2 have been identified as associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated its participation in a network crucial for various other mitochondrial functions, including mitophagy, axonal transport, and its cont...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Claudia Alberti Federica Rizzo Alessia Anastasia Giacomo Comi Stefania Corti Elena Abati Source Type: research
Free water in gray matter linked to gut microbiota changes with decreased butyrate producers in Alzheimer's disease and mild cognitive impairment
Neurobiol Dis. 2024 Mar 5:106464. doi: 10.1016/j.nbd.2024.106464. Online ahead of print.ABSTRACTNeuroinflammation contributes to the pathology and progression of Alzheimer's disease (AD), and it can be observed even with mild cognitive impairment (MCI), a prodromal phase of AD. Free water (FW) imaging estimates the extracellular water content and has been used to study neuroinflammation across several neurological diseases including AD. Recently, the role of gut microbiota has been implicated in the pathogenesis of AD. The relationship between FW imaging and gut microbiota was examined in patients with AD and MCI. Fifty-si...
Source: Neurobiology of Disease - March 7, 2024 Category: Neurology Authors: Kazuo Yamashiro Kaito Takabayashi Koji Kamagata Yuichiro Nishimoto Yuka Togashi Yohsuke Yamauchi Kotaro Ogaki Yuanzhe Li Taku Hatano Yumiko Motoi Michimasa Suzuki Koichi Miyakawa Dai Ishikawa Shigeki Aoki Takao Urabe Nobutaka Hattori Source Type: research
Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia
Neurobiol Dis. 2024 Mar 3:106462. doi: 10.1016/j.nbd.2024.106462. Online ahead of print.ABSTRACTDYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a "second hit" DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phenotype, focusing on the striatum's role in dystonia pathophysiology. Sciatic nerve crush injury was induced in ∆ETorA rats, lacking spontaneous motor abnormalities, and wild-type (wt) rats. Twelve weeks post-injury, unbiased RNA-sequencing was performed on the striatum to identify diffe...
Source: Neurobiology of Disease - March 5, 2024 Category: Neurology Authors: Susanne Knorr Lisa Rauschenberger Muthuraman Muthuraman Rhonda McFleder Thomas Ott Kathrin Grundmann-Hauser Takahiro Higuchi Jens Volkmann Chi Wang Ip Source Type: research
Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia
Neurobiol Dis. 2024 Mar 3:106462. doi: 10.1016/j.nbd.2024.106462. Online ahead of print.ABSTRACTDYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a "second hit" DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phenotype, focusing on the striatum's role in dystonia pathophysiology. Sciatic nerve crush injury was induced in ∆ETorA rats, lacking spontaneous motor abnormalities, and wild-type (wt) rats. Twelve weeks post-injury, unbiased RNA-sequencing was performed on the striatum to identify diffe...
Source: Neurobiology of Disease - March 5, 2024 Category: Neurology Authors: Susanne Knorr Lisa Rauschenberger Muthuraman Muthuraman Rhonda McFleder Thomas Ott Kathrin Grundmann-Hauser Takahiro Higuchi Jens Volkmann Chi Wang Ip Source Type: research
Formation of templated inclusions in a forebrain α-synuclein mouse model is independent of LRRK2
Neurobiol Dis. 2023 Nov;188:106338. doi: 10.1016/j.nbd.2023.106338. Epub 2023 Oct 29.ABSTRACTLeucine-rich repeat kinase 2 (LRRK2) and α-synuclein share enigmatic roles in the pathobiology of Parkinson's disease (PD). LRRK2 mutations are a common genetic cause of PD which, in addition to neurodegeneration, often present with abnormal deposits of α-synuclein in the form of Lewy-related pathology. As Lewy-related pathology is a prominent neuropathologic finding in sporadic PD, the relationship between LRRK2 and α-synuclein has garnered considerable interest. However, whether and how LRRK2 might influence the accumulation o...
Source: Neurobiology of Disease - March 4, 2024 Category: Neurology Authors: Dylan J Dues Yue Ma An Phu Tran Nguyen Alina V Offerman Ian Beddows Darren J Moore Source Type: research
T cell infiltration mediates neurodegeneration and cognitive decline in Alzheimer's disease
Neurobiol Dis. 2024 Mar 2:106461. doi: 10.1016/j.nbd.2024.106461. Online ahead of print.ABSTRACTAlzheimer's disease (AD) is a prevalent neurodegenerative disorder with pathological features of β-amyloid (Aβ) and hyperphosphorylated tau protein accumulation in the brain, often accompanied by cognitive decline. So far, our understanding of the extent and role of adaptive immune responses in AD has been quite limited. T cells, as essential members of the adaptive immune system, exhibit quantitative and functional abnormalities in the brains of AD patients. Dysfunction of the blood-brain barrier (BBB) in AD is considered one...
Source: Neurobiology of Disease - March 4, 2024 Category: Neurology Authors: Junjian Zeng Zhiqiang Liao Hanqin Yang Qiong Wang Zhiyong Wu Fuzhou Hua Zhidong Zhou Source Type: research
Formation of templated inclusions in a forebrain α-synuclein mouse model is independent of LRRK2
Neurobiol Dis. 2023 Nov;188:106338. doi: 10.1016/j.nbd.2023.106338. Epub 2023 Oct 29.ABSTRACTLeucine-rich repeat kinase 2 (LRRK2) and α-synuclein share enigmatic roles in the pathobiology of Parkinson's disease (PD). LRRK2 mutations are a common genetic cause of PD which, in addition to neurodegeneration, often present with abnormal deposits of α-synuclein in the form of Lewy-related pathology. As Lewy-related pathology is a prominent neuropathologic finding in sporadic PD, the relationship between LRRK2 and α-synuclein has garnered considerable interest. However, whether and how LRRK2 might influence the accumulation o...
Source: Neurobiology of Disease - March 4, 2024 Category: Neurology Authors: Dylan J Dues Yue Ma An Phu Tran Nguyen Alina V Offerman Ian Beddows Darren J Moore Source Type: research
T cell infiltration mediates neurodegeneration and cognitive decline in Alzheimer's disease
Neurobiol Dis. 2024 Mar 2:106461. doi: 10.1016/j.nbd.2024.106461. Online ahead of print.ABSTRACTAlzheimer's disease (AD) is a prevalent neurodegenerative disorder with pathological features of β-amyloid (Aβ) and hyperphosphorylated tau protein accumulation in the brain, often accompanied by cognitive decline. So far, our understanding of the extent and role of adaptive immune responses in AD has been quite limited. T cells, as essential members of the adaptive immune system, exhibit quantitative and functional abnormalities in the brains of AD patients. Dysfunction of the blood-brain barrier (BBB) in AD is considered one...
Source: Neurobiology of Disease - March 4, 2024 Category: Neurology Authors: Junjian Zeng Zhiqiang Liao Hanqin Yang Qiong Wang Zhiyong Wu Fuzhou Hua Zhidong Zhou Source Type: research
Influence of the gut microbiome on appetite-regulating neuropeptides in the hypothalamus: Insight from conventional, antibiotic-treated, and germ-free mouse models of anorexia nervosa
In this study, we investigate the role of the gut microbiome in appetite regulation using activity-based anorexia (ABA) mouse model of anorexia nervosa (AN) - a severe eating disorder with significant health consequences. ABA was induced in conventional, antibiotic-treated, and germ-free mice. Our results show the clear influence of the gut microbiome on the expression of four orexigenic (neuropeptide Y, agouti-related peptide, melanin-concentrating hormone, and orexin) and four anorexigenic peptides (cocaine- and amphetamine-regulated transcript, corticotropin-releasing hormone, thyrotropin-releasing hormone, and pro-opio...
Source: Neurobiology of Disease - March 3, 2024 Category: Neurology Authors: Radka Roubalov á Petra Proch ázková Tereza Kov ářová Janet Je žková Tom áš Hrnčíř Helena Tlaskalov á-Hogenová Hana Pape žová Source Type: research
Clock knockout in inhibitory neurons reduces predisposition to epilepsy and influences anxiety-like behaviors in mice
In this study, a GAD-Cre;Clockflox/flox mouse line with conditional Clock gene knockout in inhibitory neurons was established. We observed that seizure latency was prolonged, the severity and mortality of pilocarpine-induced seizure were significantly reduced, and memory was improved in GAD-Cre;Clockflox/flox mice. We hypothesize that mice with CLOCK knockout in inhibitory neurons have increased threshold for seizure, opposite from mice with CLOCK knockout in excitatory neurons. Further investigation showed Clock knockout in inhibitory neurons upregulated the basal protein level of ARC, a synaptic plasticity-associated imm...
Source: Neurobiology of Disease - February 29, 2024 Category: Neurology Authors: Lu Deng Hong Jiang Jingjing Lin Di Xu Ailin Qi Qing Guo Ping-Ping Li Xinshi Wang Judy S Liu Xiaoqin Fu Peijun Li Source Type: research
The free plasma amyloid A β < sub > 1 < /sub > < sub > - < /sub > < sub > 42 < /sub > /A β < sub > 1 < /sub > < sub > - < /sub > < sub > 40 < /sub > ratio predicts conversion to dementia for subjects with mild cognitive impairment with performance equivalent to that of the total plasma A β < sub > 1 < /sub > < sub > - < /sub > < sub > 42 < /sub > /A β < sub > 1 < /sub > < sub > - < /sub > < sub > 40 < /sub > ratio. The BALTAZAR study
CONCLUSION: The free plasma Aβ1-42/Aβ1-40 ratio is associated with a risk of conversion from MCI to dementia within three years, with performance comparable to that of the total plasma Aβ1-42/Aβ1-40 ratio. Threshold levels of the free and total plasma Aβ1-42/Aβ1-40 ratio could be determined, with a 60% lower risk of conversion for patients above the threshold than those below.PMID:38423192 | DOI:10.1016/j.nbd.2024.106459 (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - February 29, 2024 Category: Neurology Authors: S Schraen-Maschke A Duhamel J S Vidal N Ramdane L Vaudran C Dussart L Bu ée B Sablonni ère C Delaby B Allinquant A Gabelle S Bombois S Lehmann O Hanon BALTAZAR study group Source Type: research
