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Cerebellar stroke secondary to ovarian stimulation and patent foramen ovale.
Intern Med J
January 2025
Department of Neurology, St Vincent's Health Australia, Sydney, New South Wales, Australia.
Diagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
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 PDFHydrocephalus in primary brainstem hemorrhage risk predictors and management.
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 PDFPoststroke Translocator Protein Expression Dynamics and Correlations to Chronic Infarction: A -CLINDE-SPECT Study.
J Neuroimaging
January 2025
Neurobiology Research Unit, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Background And Purpose: This study aims to investigate the longitudinal changes in translocator protein (TSPO) following stroke in different brain regions and potential associations with chronic brain infarction.
Methods: Twelve patients underwent SPECT using the TSPO tracer 6-Chloro-2-(4'-123I-Iodophenyl)-3-(N,N-Diethyl)-Imidazo[1,2-a]Pyridine-3-Acetamide, as well as structural MRI, at 10, 41, and 128 days (median) after ischemic infarction in the middle cerebral artery. TSPO expression was measured in lesional (MRI lesion and SPECT lesion), connected (pons and ipsilesional thalamus), and nonconnected (ipsilesional cerebellum and contralesional occipital cortex) regions.
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