Phenotypic Overlap of CACNA1A-Related Disorders
Objective: To highlight the complex genotype-phenotype associations of CACNA1A-related disorders and demonstrate that clinical presentation may not always align with current genetic classifications. Background: Pathogenic…From syndrome to genetics: Genetic Etiologies of Dystonia with Anarthria/Aphonia
Objective: This study provides a comprehensive list of genetic causes in a large cohort of 53 pediatric and adult patients with dystonia and anarthria or…Adult-Onset Post-Pump Chorea: A Rare Manifestation Post-Cardiac Surgery in a Puerto Rican Patient
Objective: To report the first case of adult-onset post-pump chorea in Puerto Rico and raise awareness of our patient’s atypical age and onset of clinical…Kinematic Assessment of Balance in Cervical Dystonia
Objective: To investigate the kinematic basis of balance impairment in Cervical Dystonia (CD) and the response to different treatment modalities. Background: Several studies have demonstrated…Hallucinations as a Distinguishing Neuropsychiatric Feature in Idiopathic Rapid Eye Movement Sleep Behavior Disorder Patients
Objective: This study aimed to assess the severity of neuropsychiatric symptoms in individuals with idiopathic/isolated rapid eye movement (REM) sleep behavior disorder (iRBD) according to…Dual Target Bi Pallidal Deep Brain Stimulation in Tourette Syndrome Deciphering Neurophysiology with Chronic Local Field Potential Recordings
Objective: To investigate the neurophysiological activity of dual-target bi-pallidal DBS in Tourette Syndrome (TS) patients using chronic local field potential (LFP) recordings in an outpatient…Compound Heterozygous VPS13A Variants in a Chilean Chorea-Acanthocytosis Patient
Objective: To present a clinical case of a Chilean ChAC patient with a new compound heterozygous VPS13A variant. Background: Neuroacanthocytosis is a group of genetic…The Trembling Descent: Down the Stairs Dystonia in Galactosemia
Objective: To describe a unique case of multifocal dystonia in a young adult with classic galactosemia, emphasizing clinical presentation, progression, and management. Background: Classic galactosemia…Patient-reported Symptoms and their Impact in Hereditary Spastic Paraplegia and Spastic Ataxias
Objective: To understand health impacts relevant to patients with hereditary spastic paraplegia (HSP) and spastic ataxia (SPAX) by determining the prevalence and relative importance of…Unraveling NKX2-1-related disorders: clinical, genetic, and neuroimaging insights from a global cohort
Objective: To analyze the clinical spectrum, genotype-phenotype correlations, and prognostic factors in NKX2-1-related disorders (NKX2-1-RD) through a multicenter study, providing insights for improved diagnosis and…
- « Previous Page
- 1
- …
- 234
- 235
- 236
- 237
- 238
- …
- 1942
- Next Page »