Introduction: The cerebellum modulates both motor and cognitive behaviors, and a cerebellar cognitive affective syndrome (CCAS) was described after a cerebellar stroke in 1998. Yet, a CCAS is seldom sought for, due to a lack of practical screening scales. Therefore, we aimed at assessing both the prevalence of CCAS after cerebellar acute vascular lesion and the yield of the CCAS-Scale (CCAS-S) in an acute stroke setting.
Materials And Methods: All patients admitted between January 2020 and January 2022 with acute onset of a cerebellar ischemic or haemorrhagic first stroke at the CUB-Hôpital Erasme and who could be evaluated by the CCAS-S within a week of symptom onset were included.
Results: Cerebellar acute vascular lesion occurred in 25/1,580 patients. All patients could complete the CCAS-S. A definite CCAS was evidenced in 21/25 patients. Patients failed 5.2 ± 2.12 items out of 8 and had a mean raw score of 68.2 ± 21.3 (normal values 82-120). Most failed items of the CCAS-S were related to verbal fluency, attention, and working memory.
Conclusion: A definite CCAS is present in almost all patients with acute cerebellar vascular lesions. CCAS is efficiently assessed by CCAS-S at bedside tests in acute stroke settings. The magnitude of CCAS likely reflects a cerebello-cortical diaschisis.
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http://dx.doi.org/10.3389/fneur.2022.906293 | DOI Listing |
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFExp Neurobiol
December 2024
Department of Brain and Cognitive Engineering, Korea University, Seoul 02841, Korea.
Research on brain aging using resting-state functional magnetic resonance imaging (rs-fMRI) has typically focused on comparing "older" adults to younger adults. Importantly, these studies have often neglected the middle age group, which is also significantly impacted by brain aging, including by early changes in motor, memory, and cognitive functions. This study aims to address this limitation by examining the resting state networks in middle-aged adults via an exploratory whole-brain ROI-to-ROI analysis.
View Article and Find Full Text PDFEMBO J
January 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
The carboxyl terminus of Hsc70-interacting protein (CHIP) is pivotal for managing misfolded and aggregated proteins via chaperone networks and degradation pathways. In a preclinical rodent model of CHIP-related ataxia, we observed that CHIP mutations lead to increased levels of phosphodiesterase 9A (PDE9A), whose role in this context remains poorly understood. Here, we investigated the molecular mechanisms underlying the role of PDE9A in CHIP-related ataxia and demonstrated that CHIP binds to PDE9A, facilitating its polyubiquitination and autophagic degradation.
View Article and Find Full Text PDFNeurol Ther
January 2025
Biohaven Pharmaceuticals, Inc, 215 Church Street, New Haven, CT, 06510, USA.
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a valid, highly utilized measure for assessing ADL impacts in patients with Friedreich ataxia. We provide evidence of the psychometric validity of the FARS-ADL in two cohorts of patients with spinocerebellar ataxia (SCA).
Methods: Using data from a cohort of real-world subjects with SCA (recruited at Massachusetts General Hospital [MGH]; n = 33) and a phase 3 trial of troriluzole in adults with SCA (NCT03701399 [Study 206]; n = 217), comprising a subset of patients with the SCA3 genotype (n = 89), the psychometric measurement properties and minimal change thresholds of the FARS-ADL were examined.
Sci Rep
January 2025
Department of Neurosurgery, The First Affiliated Hospital, School of Medicine, Zhejiang University, No.79 Qingchun Road, Hangzhou, 310003, Zhejiang Province, China.
This study explored the risk factors associated with hydrocephalus incidence and evaluated the effectiveness of surgical treatments in managing this condition. Patients with PBSH were retrospectively evaluated, identifying clinical and radiological characteristics. A multivariate logistic regression model was used for analyses.
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