Case report of atypical PKAN expressed in late sixth-decade
Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…Neurodegeneration with Brain Iron Accumulation: A case series from a single center in India
Objective: To study the clinical, radiological and genetic characteristics of patients with NBIA from a single centre in India. Background: Neurodegeneration with Brain Iron Accumulation…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…Prevalence of seizures in patients with Neurodegeneration with Brain Iron Accumulation
Objective: To investigate the frequency and pattern of seizures in Neurodegeneration with brain iron accumulation (NBIA) disorders in a South Indian cohort. Background: Seizure as…Long-term follow up of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration Syndrome: two case reports
Objective: To present the long-term outcomes of deep brain stimulation in two cases of Pantothenate kinase-associated neurodegeneration (PKAN) syndrome. Background: PKAN syndrome is an autosomal-recessive…Neurodegeneration associated with pantothenate kinase in a Mexican Patient: Solving the Diagnostic Challenge of the Eye of Tiger
Objective: To describe the case of a patient with PKAN in Mexico, where we have a few information about inherited movement disorders, which makes the…A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…Clinical,imaging and genetic correlations in a Neuronal Brain Iron accumulation cohort from India
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics, of patients with neurodegeneration with brain iron accumulation (NBIA), with genetics and establish genotype-phenotype correlations…Eye-of-the-Tiger sign in Progressive Supranuclear Palsy
Objective: To present a rare case of eye-of-the-tiger sign in a patient with progressive supranuclear palsy (PSP). Background: The eye-of-the-tiger is a neuroradiologic sign appearing…
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