J Neural Transm (Vienna)
September 2025
Parkinson's disease (PD) is increasingly recognized as a heterogeneous neurodegenerative entity with diverse clinical presentations, genetic contributors, and neuropathological features. Central to its pathogenesis is misfolded and aggregated α-synuclein, which collectively form Lewy pathology. Recent advances in biomarker and genetic research have enabled biologically grounded models of PD classification, diagnosis and staging.
View Article and Find Full Text PDFBackground And Purpose: Movement disorders are increasingly recognized as late-occurring neurologic manifestations of 22q11.2 deletion syndrome (22q11.2DS).
View Article and Find Full Text PDFMov Disord Clin Pract
June 2025
Background: 22q11.2 deletion syndrome (22q11.2DS) has been associated with increased risk of early-onset Parkinson's disease (PD).
View Article and Find Full Text PDFBackground: Guillain-Barré syndrome (GBS) presents with progressive ascending weakness, but it can also present with dysautonomia such as tachycardia, blood pressure fluctuations, diaphoresis, ileus, and urinary retention. GBS patients with dysautonomia was observed to have longer hospital stays and higher mortality rates than those without dysautonomia. We aimed to determine the risk factors for dysautonomia and its manifestations among patients with GBS and compared their features to those without dysautonomia.
View Article and Find Full Text PDFObjective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.
View Article and Find Full Text PDFMov Disord Clin Pract
July 2023
This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS).
View Article and Find Full Text PDFParkinsonism Relat Disord
January 2023
GNB1 encephalopathy (OMIM: 616973), caused by pathogenic variants in the GNB1 gene, is a rare neurodevelopmental syndrome characterized by global developmental delay (GDD) variably co-occurring with movement disorders. For the latter, dystonia, although the most frequent, remains uncommon. Other phenomenologies including myoclonus, tics, chorea, and ataxia, as well as oculomotor abnormalities are rare [1].
View Article and Find Full Text PDFMotor symptoms are a core feature of Parkinson's disease (PD) and cause a significant burden on patients' quality of life. Oral levodopa is still the most effective treatment, however, the motor benefits are countered by inherent pharmacologic limitations of the drug. Additionally, with disease progression, chronic levodopa leads to the appearance of motor complications including motor fluctuations and dyskinesia.
View Article and Find Full Text PDFBackground And Aims: To explore the association between body mass index (BMI) and adverse outcomes in a large cohort of patients with coronavirus disease 2019 (COVID-19).
Methods: This is a secondary analysis of a 37-site, nationwide, multicenter, retrospective cohort study that investigated the clinical and neurological outcomes of adult patients with confirmed COVID-19 admitted from February to December 15, 2020.
Results: We analyzed 4,463 patients with BMI and outcome data.
Background: Autoimmune encephalitis (AE) is an emerging disorder in adults and children. Due to its potentially reversible nature, prompt recognition and intervention are of utmost importance.
Objective: To describe the clinical and paraclinical features, as well as treatment outcomes of patients with AE admitted in a Philippine tertiary hospital.
Tremor Other Hyperkinet Mov (N Y)
January 2021
Background: There is limited literature documenting hemichorea-hemiballism (HCHB) resulting from co-infection of toxoplasmosis and tuberculosis (TB) in acquired immunodeficiency syndrome (AIDS). Toxoplasmic abscess is the most common cause while TB is a rare etiology.
Case Description: We describe a 24-year-old male with AIDS-related HCHB as the presentation of cerebritis on the right subthalamic nucleus and cerebral peduncle from intracranial toxoplasma and TB co-infection.
Acute cerebellar ataxia is a rare primary manifestation of neuropsychiatric systemic lupus erythematosus (NPSLE). We report a case of a 22-year-old woman who presented with gait instability, behavioural changes and new-onset seizures. The tempo of disease progression was explained by an autoimmune cause, eventually fulfilling the criteria for systemic lupus erythematosus.
View Article and Find Full Text PDFAcute hemorrhagic leukoencephalitis (AHL) is a rare and mostly fatal fulminant demyelinating disease. This case describes a 63-year old male in status epilepticus associated with an intracerebral hemorrhage following a one week viral prodrome with rapid decline to coma. He exhibited peripheral leukocytosis, neutrophilic pleocytosis with normal glucose and high protein in cerebrospinal fluid (CSF).
View Article and Find Full Text PDFThe relative paucity of robust studies on pharmacological treatments for depression following traumatic brain injury precludes establishment of firm recommendations for its routine use in this population. The purpose of this study is to determine the efficacy and tolerability of sertraline in the treatment of post-TBI depression and improvement in quality of life. Randomized controlled trials (RCT) were identified by electronic search through PubMed, Scopus, CINAHL (Cumulative Index to Nursing and Allied Health Literature), LILACS (Literatura Latino-Americana e do Caribe em Ciencas da Saude), Cochrane Library, Clinicaltrials.
View Article and Find Full Text PDF•In patients presenting with clinical manifestations of encephalitis without clinical or laboratory signs of infection, an autoimmune etiology should be suspected.•Antibodies for various neural antigens may coexist, thus a complete and clinically-guided autoimmune panel must be done in suspected cases of autoimmune encephalitis.•Tumor resection, if applicable, combined with high dose steroids and immunotherapy are effective treatment strategies for autoimmune encephalitis with coexisting antibodies.
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