Atypical presentation of Pantothenate Kinase-Associated Neurodegeneration in two siblings with a PANK-2 gene mutation: A case report and literature review.
Objective: To describe the cases of two siblings diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN) with mutations in the PANK2 gene. Background: PKAN is part of…The Diagnostic Dilemma in ATP7B Heterozygosity
Objective: We aim to address the uncertainties surrounding the genotype-phenotype correlation in ATP7B pathogenic mutations, particularly with a focus on heterozygous carriers, challenging the traditionally…Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…A Case of SGCE Myoclonus-Dystonia diagnosed in a 70-Year-Old Male
Objective: N/A Background: SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by myoclonus and dystonia, primarily affecting the neck, trunk, and upper limbs. Patients may…Rare DYT23 Dystonia, First Diagnosed Case in Ukraine
Objective: To provide a description of a patient with rare DYT23 dystonia. Background: DYT23 type dystonia is characterized by adult-onset, focal cervical dystonia typically manifesting…The Spectrum of Presenting Phenotypes in Childhood Onset Huntingtons Disease
Objective: Childhood-onset Huntington’s disease (HD) is a rare subset of HD with symptom-onset before the age of 18 years. We here detail the presenting movement…Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…Spastic paraparesis and paroxysmal dystonia associated with a novel mutation in ATP1A3 in a spanish family
Objective: To describe a new phenotype related to a novel mutation in ATP1A3 in two women from the same family Background: Mutations in ATP1A3 have…Tetradystonics patients may be misdiagnosed?
Objective: Present a case of movement disorder that genetic panel hasn’t tracked in the screening, and it’s stabilization with L-carnitine. Background: isobutyryl-CoA dehydrogenase deficiency is…Deep brain stimulation of globus pallidus internus for monogenic dystonia
Objective: We aimed to evaluate the efficacy of GPi-DBS in patients with monogenic autosomal dominant dystonia associated with mutations in TOR1A(DYT1), THAP(DYT6),and KMT2B (DYT28) genes.…
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