POU4F1-related ataxia: phenotyping of a rare genetic ataxia.
Objective: To illustrate the symptoms, signs, and videotaped examination of a rare genetic disorder. Background: POU4F1 encodes a transcription factor involved in nervous system development.…POLR3A-Related Disorders and Response to Deep Brain Stimulation
Objective: To expand on the phenotypic spectrum of POLR3A c.1909+22G>A splice variant and report two patients’ tremor response to deep brain stimulation. Background: Polymerase III…A novel missense variant in the TTBK2 gene in a north American family with late-onset cerebellar ataxia.
Objective: To describe a case of novel genetic variant of TTBK2 gene in a woman with late-onset cerebellar ataxia and her symptomatic mother. Background: Pathogenic…The neuroprotective miRNA family hsa-miR-451 has a distinctive pattern of downregulation in neurodegenerative diseases.
Objective: 1.Identification of microRNAs from whole blood PBMCs of SCA2 patients by using NGS. 2.To check the exclusivity of miRNAs in SCA2, SCA1,SCA3,SCA12,HD,ALS,PD and MSA-C…Diffusion Tensor Imaging of Spinocerebellar ataxia type 12 patients in comparison of Healthy control
Objective: To assess changes in brain tissue microstructures using diffusion tensor imaging parameters, fractional anisotropy (FA), increased radial (RD) and axial diffusivities (AD) in SCA…Rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia.
Objective: Describe a rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia. Background: SPG7-related spastic paraplegia (SPG7) is a hereditary spastic paraplegia caused by…Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report.
Objective: Spinocerebellar ataxia autosomal recessive type 10 (SCAR 10) is a very rare cause of slowly progressive cerebellar ataxia caused by mutations of ANO10 gene…Outcomes From Genetic Testing in a UK Movement Disorder Clinic
Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…Expanding the clinical phenotype of ataxia associated with PMPCA mutations
Objective: To describe two probable cases of autosomal recessive ataxia associated with mutations in the PMPCA gene (ATX-PMPCA) secondary to novel compound heterozygous variants. Background:…Learnings from inaugural year of foundation sponsored genetic counseling and testing program for Spinocerebellar Ataxia (SCA) types 1, 2, and 3
Objective: To describe volume, genetic results, and participant perceptions of foundation sponsored genetic counseling and testing program for SCA 1, 2, and 3. Background: Molecular…
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