Results 41 to 50 of about 1,219 (158)
Wernekink commissure syndrome: clinico-radiological criteria
Introduction: Wernekink commissure syndrome is a rare midbrain syndrome selectively affecting the Wernekink commissure, characterized by bilateral cerebellar ataxia and eye movement disorders, especially internuclear ophthalmoplegia. This article aims at
Sheetal S, Amith Kumar S, Reji Thomas
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Various movement disorders, such as oromandibular dystonia, oral dyskinesia, bruxism, functional (psychogenic) movement disorder, and tremors, exist in the stomatognathic system.
Kazuya Yoshida
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Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés +10 more
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Safety and Efficacy of the Versius Surgical System in Transoral Robotic Surgery: A Prospective Study
Abstract Objective To evaluate the safety and feasibility of the Versius surgical robotic system for transoral robotic surgery in benign and malignant head and neck indications. Study Design Open‐label, prospective, single‐arm, phase II clinical trial. Setting Liverpool Head and Neck Centre, United Kingdom. Methods Between December 2023 and March 2025,
Jason C. Fleming +11 more
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Background: Hypertrophic olivary degeneration (HOD) is a rare phenomenon, probably related to transsynaptic degeneration of the inferior olivary nucleus.
Djalma F. S. Menendez +4 more
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ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli +7 more
wiley +1 more source
Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Voice and Speech in Atypical Parkinsonian Disorders
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel +48 more
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Pellagra in Contemporary Clinical Practice (2000–2023): A Systematic Review
This systematic review (2000–2023) of 1212 cases highlights pellagra's evolving etiology. While primary dietary deficiency (85%) persists in humanitarian crises, secondary forms from alcohol misuse (9.6%), isoniazid (14.3% of drug‐related cases), and malabsorption are rising.
Noureddine Litaiem +2 more
wiley +1 more source
Palatal tremor: an unusual manifestation of CADASIL [PDF]
Cerebral autosomal dominant arteriopathy with subcortical infarctsand leukoencephalopathy (CADASIL) is an inherited autosomaldominant condition characterized by migraine, recurrent subcorticalischemic events and vascular dementia.
Orlando Graziani Povoas Barsottini +4 more
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