Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…Late-onset cerebellar ataxia revealing a Pantothenate-kinase-associated neurodegeneration
Objective: Recall a case of genetic late-onset cerebellar ataxia with a specific clinical and radiological feature highly suggestive of Pantothenate-kinase-associated neurodegeneration(PKAN). Background: Cerebellar ataxia is…FGF14 repeat expansions: Case series of adult-onset cerebellar ataxia patients from Serbia
Objective: The aim of this study was to investigate the presence of pathogenic repeat expansion in the FGF14 gene in patients with adult-onset cerebellar ataxia…FRMD5 de novo variants in two cases with childhood onset ataxia and seizures
Objective: To describe two cases affected by childhood onset ataxia and seizures carrying de novo variants in the gene FRMD5 Background: FRMD5 belongs to the…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…
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