Kufor-Rakeb Syndrome With a Novel Splice-Site Variant in the ATP13A2 Gene
Objective: To report a patient with juvenile-onset parkinsonism harboring a novel homozygous splice-site variant in ATP13A2. Background: Kufor-Rakeb syndrome (KRS) is an ultra-rare form of…A Rare Case of PLA2G6 Gene Related Early-Onset Dystonia-Parkinsonism; What Not to Miss Clinically and Radiologically
Objective: PLA2G6-associated neurodegeneration (PLAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA) leading to heterogeneous clinical manifestation including infantile neuroaxonal dystrophy, atypical…Globus Pallidus Internus Deep Brain Stimulation for Dystonia in COX20-Related Mitochondrial Complex IV Deficiency (MC4DN11): First Reported Case
Objective: To describe the clinical response to bilateral GPi-DBS in a patient with MC4DN11-associated dystonia. Background: Mitochondrial Complex IV Deficiency, Nuclear Type 11 (MC4DN11), caused…ANK2 Mutations Associated with a Myoclonus-Dystonia Phenotype: Expanding the Neurological Spectrum of Ankyrin-B Dysfunction
Objective: To deeply characterize the clinical and genetic spectrum of ANK2-related hyperkinetic movement disorders and expand their recognized link to myoclonus-dystonia phenotype. Background: The ANK2…Spectrum of Wilson’s Disease from a Tertiary care hospital
Objective: 1. To describe the various neurological manifestations in Wilson's disease2. To describe the non-neurological manifestations in Wilson's disease Background: Wilson's disease is a rare…SCN8A-Related Disorders: Expanding the Movement Disorder Phenotype Through a Case Report and Literature Review
Objective: To describe a pediatric case with a pathogenic SCN8A variant who presented with neurodevelopmental delay, seizure and prominent cerebellum signs, along with providing a…Myoclonus-Dystonia as a Phenotype of HGPPS1: A Case Report
Objective: To describe a clinical case and the results of genetic analysis in a patient with a combination of HGPPS1 and myoclonus-dystonia. Background: Horizontal gaze…Novel Presentation of Spinocerebellar Ataxia 27B (SCA27B): Episodic, Exercise-induced Truncal Dystonia Responsive to Dalfampridine
Objective: To describe a novel manifestation of SCA27B in a patient whose presenting symptom was episodic, isolated truncal dystonia Background: SCA27B is a late-onset hereditary ataxia that has been characterized…Atypical Phenotype of SORL1-Associated Early-Onset Alzheimer’s Disease With Oromandibular and Cervical Dystonia
Objective: We present a case of early-onset Alzheimer’s disease associated with a mutation in the SORL1 gene accompanied by extrapyramidal symptoms, including oromandibular and cervical…SGCE Mutations in Chinese Dystonia Patients: A Dual-Center Sequencing Study and Literature Review
Objective: To delineate the clinical and genetic profiles of dystonia patients with SGCE mutations in the Chinese population. Background: SGCE mutations are the primary cause of…
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