Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…New pathogenic mutation in the Niemann-Pick C (NPC) Type 1 gene: Confirmation by diagnostic workup of NPC in a 41-year-old woman with idiopathic late onset cerebellar ataxia (ILOCA)
Objective: We present an instructive case of a 41-year-old woman with idiopathic late onset cerebellar ataxia. Background: Identifying the cause of idiopathic late onset cerebellar…Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population
Objective: To describe genotype-phenotype correlation in Indian FRDA patients. Background: Friedreich’s Ataxia(FRDA), an early onset rare autosomal recessive ataxia is caused by bi-allelic loss of…Association of TTPA mutation and peripheral nerve involvement in Gait disturbances in Ataxia With Vitamin E Deficiency (AVED)
Objective: To determine if peripheral nerve involvement and the type of TTPA mutation are determinant for gait ataxia in patients with AVED in vitamin E…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…Upward Gaze Palsy in SCA3: a valuable semiological sign
Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent…Clinical and imagiological features in Portuguese patients with SPG7 mutations
Objective: To better characterize spastic paraplegia type 7 (SPG7) phenotype in a Portuguese cohort of patients. Background: Hereditary spastic paraplegias(HSP) and cerebellar ataxias(CA) are heterogeneous…Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A Mexican case report
Objective: To describe the clinical presentation of 2 Mexican brothers diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and compare their presentation with those…A Korean first case of Boucher-Neuhäuser syndrome with two novel mutations of PNPLA6 gene
Objective: To report a patient who presented with hypogonadotropic hypogonadism, chorioretinal dystrophy, and cerebellar ataxia. He has 2 missense variant mutations of PNPLA6. Background: Boucher-Neuhäuser…Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3
Objective: We herein report a 20 years old female, who presented with axial myoclonus, dysarthria and gait ataxia. Background: Autosomal recessive ataxias are a group…
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