Accuracy of AI-driven automated diagnostic software analyzing Susceptibility Map-Weighted Imaging to Differentiate Neurodegenerative from Non-neurodegenerative Parkinsonism
Objective: To determine the accuracy of AI-driven automated diagnostic software analyzing susceptibility map-weighted imaging (SMWI) to distinguish neurodegenerative from non-neurodegenerative parkinsonism in patients who had…Superficial siderosis; a case review
Objective: To highlight an often overlooked cause of ataxia with hearing impairment. Background: Superficial siderosis (SS) of the nervous system is caused by chronic hemosiderin…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…Clinical, radiological and genetic spectrum of fifteen cases of PLA2G6-Associated Neurodegeneration – A Single Centre Cohort from India
Objective: To study the clinical, radiological and genetic profile of patients with genetically proven PLA2G6-Associated Neurodegeneration (PLAN). Background: PLAN is a clinically heterogenous genetic disorder…A white matter disease with blooming grey matter
Objective: To describe a case of LMNB1-related autosomal dominant leukodystrophy with unique radiological features. Background: Autosomal dominant leukodystrophy (ADLD), caused by the duplication of the…Consanguinity is the key player in complexity of Mendelian form of neurodegeneration with brain iron accumulation in Pakistan
Objective: In the current work, we recognized big inbreed Pakistani family with autosomal recessive NBIA containing several affected individuals. Aim of the research work was…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…Detailed illustration of a Turkish patient with homozygous C19ORF12 mutation
Objective: To illustrate a rare Turkish patient with homozygous C19ORF12 mutation and discuss limitations regarding the current terminology and classification. Background: Neurodegeneration with brain iron…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…Exome sequencing of 584 Chinese proband with brain calcification
Objective: The aim of this study is to evaluate the diagnostic value of whole exome sequencing in Chinese patients with brain calcification, and to provide exome sequencing-based insights into the genetic…
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