Genotype and age at onset drive vermis atrophy in CACNA1A and GAA-FGF14 related ataxias
Objective: To assess cerebellar volumetry using a deep learning method in patients with non-polyglutamine CACNA1A- or GAA-FGF14-related disease. Background: Ion channel dysfunction is a recurring…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…Case Series of 13 Hereditary Ataxia Patients From The Chiloe Islands, Chile.
Objective: To describe a case series of HA patients from Chiloé, identifying genetic variants and analyzing phenotypes. Background: The Chiloé Islands, located in southern Chile,…Autosomal dominant ataxias expression profiles based on distinct clinical phenotypes.
Objective: We examined whether distinct phenotypes in genetic ataxias have any implications for disease pathophysiology. Background: Inherited ataxias affect at least 150,000 people in the…Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation
Objective: We present a case of a patient with spinocerebellar ataxia symptoms associated with a previously unknown mutation of the SYT14 gene. Background: Spinocerebellar ataxias…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Spinocerebellar Ataxia Type 7: First Report of Clinical and Molecular Findings of Two Family in Senegal – West Africa (Video Cases)
Objective: Describe the clinical and molecular findings in two families originating from Senegal. Background: Spinocerebellar ataxia type 7 is an inherited neurodegenerative disease caused by…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2
Objective: Objective: To demonstrate the importance of serum biomarkers, such as alpha-fetoprotein (AFP), in the diagnostic evaluation of Ataxia with Oculomotor Apraxia Type 2 (AOA2).…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- …
- 32
- Next Page »