63 patients with primary cerebellar and spinocerebellar ataxia have been studied with MRI. This method allows to identify in vivo different groups of diseases such as that characterized by atrophy of cerebellum alone; that with atrophy of cerebellum associated with brainstem changes; the forms with associated changes of basal ganglia; the forms with spinal cord atrophy alone, as well as transitional forms. An interesting correlation between the varying groups and the type of inheritance was found, while no correlation with other clinical aspects was observed.
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Neurol Genet
February 2025
Memory Center, Keio University School of Medicine, Tokyo, Japan.
Background And Objectives: A previous postmortem study of men with Christianson syndrome, a disorder caused by loss-of-function mutations in the gene , reported a mechanistic link between pathologic tau accumulation and progressive symptoms such as cerebellar atrophy and cognitive decline. This study aimed to characterize the relationships between neuropathologic manifestations and tau accumulation in heterozygous women with mutation.
Methods: We conducted a multimodal neuroimaging and plasma biomarker study on 3 middle-aged heterozygous women with mutations (proband 1: mid-50s; proband 2: early 50s; proband 3: mid-40s) presenting with progressive extrapyramidal symptoms.
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.
View Article and Find Full Text PDFThe COVID-19 pandemic and increased demands for neurologists have inspired the creation of remote, digitalized tests of neurological functions. This study investigates two tests from the Neurological Functional Tests Suite (NeuFun-TS) smartphone application, the "Postural Sway" and "Pronator Drift" tests. These tests capture different domains of postural control and motoric dysfunction in healthy volunteers (n=13) and people with neurological disorders (n=68 relapsing-remitting multiple sclerosis [MS]; n=21 secondary progressive MS; n=23 primary progressive MS; n=13 other inflammatory neurological diseases; n=21 non-inflammatory neurological diseases; n=4 clinically isolated syndrome; n=1 radiologically isolated syndrome).
View Article and Find Full Text PDFMed Sci Monit
January 2025
Department of Neurosurgery, Istanbul Training and Research Hospital, Istanbul, Turkey.
BACKGROUND Chiari malformation type 1 occurs when the cerebellar tonsils are pushed into the spinal canal, which can result in syringomyelia. This retrospective study from a single center evaluated outcomes in 89 patients with Chiari malformation type-I (CM-I) and syringomyelia treated with an arachnoid-preserving technique between 2016 and 2023. MATERIAL AND METHODS A retrospective analysis was conducted at a tertiary referral center, involving 88 adult patients and 1 adolescent patient aged 14 to 61 years, with diagnosis by MRI and treated for CM-I with syringomyelia between 2016 and 2023, using the arachnoid-preserving technique.
View Article and Find Full Text PDFNeuroimage
January 2025
Department of Nuclear Medicine, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany. Electronic address:
Aim: Standardized evaluation of [F]PI-2620 tau-PET scans in 4R-tauopathies represents an unmet need in clinical practice. This study aims to investigate the effectiveness of visual evaluation of [F]PI-2620 images for diagnosing 4R-tauopathies and to develop a straight-forward reading algorithm to improve objectivity and data reproducibility.
Methods: A total of 83 individuals with [F]PI-2620 PET scans were included.
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