Bilateral limb-shaking transient ischemic attack (LS-TIA) is a rare disease involving carotid artery stenosis, characterized by ballism-like involuntary movements of the arms and legs. We describe the case report of a male patient in his 80s presented with continuous bilateral ballism in the arms and legs and tongue dyskinesia. Magnetic resonance imaging showed no ischemic lesions, while cerebral angiography revealed right internal carotid artery (ICA) occlusion and 80% stenosis of the left ICA. 99mTc-ethyl cysteinate dimer single-photon emission computed tomography demonstrated hypoperfusion in the right cerebral cortex but hyperperfusion in both basal ganglia. Left ICA stenting was performed, and involuntary limb shaking disappeared. This case report highlights the importance of accurate diagnosis and treatment of bilateral ballism as LS-TIA.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2022.106781 | DOI Listing |
Mol Med
January 2025
Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China.
Background: Mitochondrial dysfunction and neuronal damage are major sign of cytopathology in Huntington's disease (HD), a neurodegenerative disease. Ubiquitin specific peptidase 11 (USP11) is a deubiquitinating enzyme involved in various physiological processes through regulating protein degradation. However, its specific role in HD is unclear.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology and Institute of Neurology, Ruijin Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China.
Background: Bilateral deep brain stimulation (DBS) of subthalamic nucleus (STN) has demonstrated efficacy for ameliorating medication-refractory isolated dystonia. Nonetheless, the paucity of evidence regarding its long-term impact on quality-of-life (QoL) necessitates further investigation.
Objectives: This study aimed to elucidate the longitudinal effects of chronic STN stimulation on QoL in patients suffering from isolated dystonia.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Department of Neurology, First Medical Center of Chinese People's Liberation Army (PLA) General Hospital, Beijing, China.
Background: Diabetic striatopathy (DS) is a rare disorder characterized by clinical manifestations of hemichorea, non-ketotic hyperglycemia, and high signal on T1-weighted MRI or high density on CT scan in basal ganglia, typically associated with poor glycemic control.
Objective: This study aimed to analyze clinical characteristics of patients with diabetic striatopathy to raise awareness amongst physicians, especially endocrinologists, about this rare neurological manifestation in patients with diabetes.
Methods: We retrospectively analyzed the data on clinical presentations, laboratory workups, and cranial CT and MRI of six patients with DS who were admitted to our hospital from October 2013 to June 2022.
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