KEY TEACHING POINTS.
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http://dx.doi.org/10.1016/j.jaad.2016.01.057 | DOI Listing |
AJNR Am J Neuroradiol
January 2025
Department of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children's Hospital V. Buzzi, Milan, Italy.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.
View Article and Find Full Text PDFCureus
December 2024
Department of Rehabilitation, Musashigaoka Hospital, Kumamoto, JPN.
Gait asymmetry in post-stroke patients is an important gait characteristic that is associated with their balance control, inefficiency, and risks of musculoskeletal injury to the non-paretic lower limb and falling. Unfortunately, most stroke patients retain an asymmetrical gait pattern, even though their gait independence and gait speed improve. We describe the clinical course of a subacute stroke patient who achieved a symmetrical gait at discharge after undergoing both gait training with orthoses and robot-assisted gait training from the early intervention phase.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, JianShe Road 1#, Zhengzhou, 450000, China.
Previous observational studies have suggested at a potential link between migraine, particularly migraine with aura, and the susceptibility to early-onset ischemic stroke. We aimed to investigate the causal effects of genetically determined migraine and its subtypes on the risk of early-onset ischemic stroke using the two-sample Mendelian randomization method. Genetic instrumental variables associated with migraine and its subtypes were acquired from two sources with the largest sample sizes available.
View Article and Find Full Text PDFAnn Neurol
December 2024
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Objective: Variants in PRKN and PINK1 are the leading cause of early-onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long-read sequencing. This study aims to determine if ONT long-read sequencing can detect a second variant in other unresolved early-onset Parkinson's disease (EOPD) cases with 1 heterozygous PRKN or PINK1 variant.
View Article and Find Full Text PDFNeurology
January 2025
From the ARAMIS (S.K., S.T.D.M.), Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Groupe Hospitalier Sorbonne Université; Centre de référence pour les maladies vasculaires rares du cerveau et de l'œil (CERVCO) and Centre Neurovascular Translationnel (CNVT) (D.H., A.J., S.R., C.M., S.G., A.T., F.F., H.C.), AP-HP, Paris; and INSERM U1141 - FHU NeuroVasc (D.H., S.G., H.C.), Université Paris Cité, France.
Background And Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent small artery brain disease caused by pathogenic variants of the NOTCH3 gene. During the disease, we still do not know how the various deficits progress and develop with each other at different stages of the disease. We aim to model disease progression and identify possible progressive subgroups and the effects of different covariates on clinical worsening.
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