Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene. Background: Pathogenic variants at ATM gene are associated both, to…Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease
Objective: We describe a late-onset presentation of Gerstmann-Sträussler-Scheinker disease (GSS) with a novel mutation in the prion protein (PRNP) gene. We compare this case to…Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…Impulsivity and Compulsivity in Cerebellar Ataxias
Objective: To elucidate the role of human cerebellum in the reward processing system, of which a new cerebellar circuitry was recently identified in mice [1].…Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings
Objective: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia due to SETX gene mutation characterized by progressive cerebellar atrophy, neuropathy,…Outcomes After Weighted Lumbosacral Orthosis (LSO) and Exercises in Patients with Progressive Cerebellar Ataxia
Objective: Readers will recognize the weighted lumbosacral orthosis (LSO) as a tool to enhance balance exercises to improve function in persons with progressive cerebellar ataxia.…A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
Objective: To identify and characterize the genetic cause of common, idiopathic, cerebellar ataxia. Background: Late-onset ataxia is a common reason for neurological consultation, but its…Quantitative evaluation of gait ataxia of Multiple System Atrophy patients
Objective: To perform gait analysis on patients with multiple system atrophy (MSA) and assess whether the obtained data could be used as neurophysiological biomarkers. Background:…A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent
Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis. Background: AT is a rare autosomal recessive…Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients
Objective: To report the phenotype among the largest number of genotypically confirmed SCA 12 patients. Background: SCA12 is an autosomal dominant cerebellar ataxia (ADCA) caused…
- « Previous Page
- 1
- …
- 17
- 18
- 19
- 20
- 21
- …
- 31
- Next Page »