Case report on heterozygous OPA3 gene mutation causing ataxia
Objective: To describe a case of adult-onset ataxia with a heterozygous p.Lys10Asn OPA3 mutation. Background: Mutations in the OPA3 gene, which encodes a mitochondrial membrane…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia
Objective: To describe two familiar cases of hypoceruloplasminemia presenting with movement disorders Background: Aceruloplasminemia is a metabolic disorder caused by mutations in the ceruloplasmin (CP)…First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline
Objective: To delineate the clinical presentation, exam phenomenology, brain MRI findings and to review the literature of the first reported adult-onset case of ultrarare ERCC1…Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?
Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…Frequency of SCA 2, 3 and 7 in Slovak patients with spinocerebellar ataxia – first report of SCA2 patient from Slovakia
Objective: The aim of this study is to investigate the frequency of spinocerebellar ataxia (SCA) 2, 3 and 7 among Slovak patients with cerebellar ataxia…A juvenile onset Sandhoff disease case caused by hemizygous mutations of HEXB
Objective: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed…Late Onset Cerebellar Ataxia in a Patient with a Heterozygous Pathogenic KIF1A Mutation: A Case Report
Objective: Expand upon the current phenotypic understanding of those with KIF1A-associated neurological disorder (KAND), including late onset progressive cerebellar ataxia (CA). Background: KAND encompasses a group…Dystonia as presenting feature of Witteveen-kolk Syndrome
Objective: To describe the clinical heterogeneity and expand the phenotypic spectrum of Witteveen- Kolk syndrome Background: Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, first described…Spinocerebellar ataxia type 28 presenting as spastic paraparesis
Objective: To describe a patient with spinocerebellar ataxia type 28 (SCA28) presenting with isolated spastic paraparesis. Background: Autosomal dominant (AD) mutations in the ATPase family…
- « Previous Page
- 1
- …
- 12
- 13
- 14
- 15
- 16
- …
- 36
- Next Page »