Paraneoplastic cerebellar and brainstem disorders
Handb Clin Neurol. 2024;200:173-191. doi: 10.1016/B978-0-12-823912-4.00030-X.ABSTRACTParaneoplastic cerebellar and brainstem disorders are a heterogeneous group that requires prompt recognition and treatment to help prevent irreversible neurologic injury. Paraneoplastic cerebellar degeneration is best characterized by Yo antibodies in patients with breast or ovarian cancer. Tr (DNER) antibodies in patients with Hodgkin lymphoma can also present with a pure cerebellar syndrome and is one of the few paraneoplastic syndromes found with hematological malignancy. Opsoclonus-myoclonus-ataxia syndrome presents in both pediatric a...
Source: Clinical Breast Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Justin R Abbatemarco Christian A Vedeler John E Greenlee Source Type: research
Paraneoplastic neurologic syndrome associated with gynecologic and breast malignancies
Handb Clin Neurol. 2024;200:409-417. doi: 10.1016/B978-0-12-823912-4.00014-1.ABSTRACTGynecologic and breast malignancies are the cancers most commonly associated with paraneoplastic neurologic syndromes, of which the foremost is Yo [Purkinje cell antibody, type 1 (PCA-1)] paraneoplastic cerebellar degeneration. Yo syndrome affects women in the sixth decade and manifests as a subacute severe cerebellar ataxia. The association of the typical clinical picture with the detection of Yo antibodies in a patient's serum or CSF defines the diagnosis. Yo syndrome is always associated with a cancer, and the search for the underlying ...
Source: Clinical Breast Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Elise Peter J érôme Honnorat Virginie Desestret Source Type: research
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers
Cerebellum. 2024 Mar 16. doi: 10.1007/s12311-024-01679-w. Online ahead of print.ABSTRACTThe aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation. The movements of the centre of feet pressure (COP...
Source: Cerebellum - March 16, 2024 Category: Neuroscience Authors: Anna Sobanska Leszek Czerwosz Anna Sulek Rafal Rola Iwona Stepniak Maria Rakowicz Source Type: research
Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
Clin Neurophysiol. 2024 Mar 7;161:157-158. doi: 10.1016/j.clinph.2024.02.035. Online ahead of print.NO ABSTRACTPMID:38492270 | DOI:10.1016/j.clinph.2024.02.035 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - March 16, 2024 Category: Neurology Authors: Luciana Pelosi Eoin Mulroy Ruth Leadbetter Miriam Rodrigues Richard Roxburgh Source Type: research
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers
Cerebellum. 2024 Mar 16. doi: 10.1007/s12311-024-01679-w. Online ahead of print.ABSTRACTThe aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation. The movements of the centre of feet pressure (COP...
Source: Cerebellum - March 16, 2024 Category: Neuroscience Authors: Anna Sobanska Leszek Czerwosz Anna Sulek Rafal Rola Iwona Stepniak Maria Rakowicz Source Type: research
Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
Clin Neurophysiol. 2024 Mar 7;161:157-158. doi: 10.1016/j.clinph.2024.02.035. Online ahead of print.NO ABSTRACTPMID:38492270 | DOI:10.1016/j.clinph.2024.02.035 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - March 16, 2024 Category: Neurology Authors: Luciana Pelosi Eoin Mulroy Ruth Leadbetter Miriam Rodrigues Richard Roxburgh Source Type: research
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers
Cerebellum. 2024 Mar 16. doi: 10.1007/s12311-024-01679-w. Online ahead of print.ABSTRACTThe aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation. The movements of the centre of feet pressure (COP...
Source: Cerebellum - March 16, 2024 Category: Neuroscience Authors: Anna Sobanska Leszek Czerwosz Anna Sulek Rafal Rola Iwona Stepniak Maria Rakowicz Source Type: research
Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
Clin Neurophysiol. 2024 Mar 7;161:157-158. doi: 10.1016/j.clinph.2024.02.035. Online ahead of print.NO ABSTRACTPMID:38492270 | DOI:10.1016/j.clinph.2024.02.035 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - March 16, 2024 Category: Neurology Authors: Luciana Pelosi Eoin Mulroy Ruth Leadbetter Miriam Rodrigues Richard Roxburgh Source Type: research
Disassembly of the TRIM56-ATR complex promotes cytoDNA/cGAS/STING axis–dependent intervertebral disc inflammatory degeneration
In this study, we reveal a mechanism of IVDD progression in which aberrant genomic DNA damage promoted NP cell inflammatory senescence via activation of the cyclic GMP-AMP synthase/stimulator of IFN genes (cGAS/STING) axis but not of absent in melanoma 2 (AIM2) inflammasome assembly. Ataxia-telangiectasia–mutated and Rad3-related protein (ATR) deficiency destroyed genomic integrity and led to cytosolic mislocalization of genomic DNA, which acted as a powerful driver of cGAS/STING axis–dependent inflammatory phenotype acquisition during NP cell senescence. Mechanistically, disassembly of the ATR–tripartite motif–con...
Source: Journal of Clinical Investigation - March 16, 2024 Category: Biomedical Science Authors: Weifeng Zhang, Gaocai Li, Xingyu Zhou, Huaizhen Liang, Bide Tong, Di Wu, Kevin Yang, Yu Song, Bingjin Wang, Zhiwei Liao, Liang Ma, Wencan Ke, Xiaoguang Zhang, Jie Lei, Chunchi Lei, Xiaobo Feng, Kun Wang, Kangcheng Zhao, Cao Yang Source Type: research
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers
AbstractThe aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation. The movements of the centre of feet pressure (COP) during quiet standing with eyes open (EO) and closed ...
Source: The Cerebellum - March 16, 2024 Category: Neurology Source Type: research
Real-time field-programmable gate array-based closed-loop deep brain stimulation platform targeting cerebellar circuitry rescues motor deficits in a mouse model of cerebellar ataxia
CONCLUSION: Our real-time FPGA-based DCN-DBS system could be a potential clinical strategy for alleviating cerebellar ataxia and other movement disorders.PMID:38488445 | DOI:10.1111/cns.14638 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - March 15, 2024 Category: Neuroscience Authors: Gajendra Kumar Zhanhong Zhou Zhihua Wang Kin Ming Kwan Chung Tin Chi Him Eddie Ma Source Type: research
Real-time field-programmable gate array-based closed-loop deep brain stimulation platform targeting cerebellar circuitry rescues motor deficits in a mouse model of cerebellar ataxia
CONCLUSION: Our real-time FPGA-based DCN-DBS system could be a potential clinical strategy for alleviating cerebellar ataxia and other movement disorders.PMID:38488445 | PMC:PMC10941591 | DOI:10.1111/cns.14638 (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - March 15, 2024 Category: Neuroscience Authors: Gajendra Kumar Zhanhong Zhou Zhihua Wang Kin Ming Kwan Chung Tin Chi Him Eddie Ma Source Type: research
Effects of cognitive-motor intervention for pediatric posterior fossa tumor survivors: results of a pilot study
AbstractThe purpose of this prospective pilot study was to evaluate the feasibility and effects of cognitive-motor intervention on the cognitive and motor abilities of pediatric survivors of posterior fossa tumors. The study involved patients aged 7 to 18 years with cognitive deficits who had completed primary treatment for posterior fossa tumors. 25 participants (Mage=11.3 ± 2.93, 64% male; 17 medulloblastoma, 1 ependymoma, 1 desmoplastic medulloblastoma, 6 piloid astrocytoma; 22 in remission (Mmonths =45), 3 in stabilization (Mmonths=49)) were recruited from the Research Institute for Brain Development and Peak Per...
Source: Journal of Neuro-Oncology - March 15, 2024 Category: Cancer & Oncology Source Type: research
Multiple system atrophy: an update and emerging directions of biomarkers and clinical trials
AbstractMultiple system atrophy is a rare, debilitating, adult-onset neurodegenerative disorder that manifests clinically as a diverse combination of parkinsonism, cerebellar ataxia, and autonomic dysfunction. It is pathologically characterized by oligodendroglial cytoplasmic inclusions containing abnormally aggregated α-synuclein. According to the updated Movement Disorder Society diagnostic criteria for multiple system atrophy, the diagnosis of clinically established multiple system atrophy requires the manifestation of autonomic dysfunction in combination with poorly levo-dopa responsive parkinsonism and/or ce rebellar...
Source: Journal of Neurology - March 14, 2024 Category: Neurology Source Type: research
Functionally-instructed modifiers of response to ATR inhibition in experimental glioma
CONCLUSION: In conclusion, our study leads to the identification of novel combination therapies involving ATRi that could inform future preclinical studies and early phase clinical trials.PMID:38475864 | DOI:10.1186/s13046-024-02995-z (Source: Cell Research)
Source: Cell Research - March 13, 2024 Category: Cytology Authors: Bianca Walter Sophie Hirsch Laurence Kuhlburger Aaron Stahl Leonard Schnabel Silas Wisser Lara A Haeusser Foteini Tsiami Sarah Pl öger Narges Aghaallaei Advaita M Dick Julia Skokowa Christian Schmees Markus Templin Katja Schenke-Layland Marcos Tatagiba S Source Type: research
