Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…A Case of Mitochondrial Membraine Protein-Associated Neurodegeneration with Progressive Parkinsonism in a Young Male
Objective: N/a Background: Less than a hundred cases of mitochondrial membrane protein-associated neurodegeneration (MPAN) have been reported thus far in literature. We present a case…Diagnostic yield of Whole-genome sequencing in Genetic Movement disorders
Objective: To assess the breadth of presentations to a tertiary neurogenetics clinic and evaluate the diagnostic yield of whole-genome sequencing (WGS) in genetic movement disorders.…The identification of two novel intronic variants of the SPG4/SPAST gene with pathogenic effect reveals a novel genotype-phenotype correlation
Objective: To perform clinical and genetic analysis of two large families with autosomal dominant hereditary spastic paraplegia (ADHSP). Background: Hereditary spastic paraplegia (HSP) is a…Spastic Paraplegia as a Novel Phenotype in Late Adulthood Onset POLG Disease: A Pathophysiological Continuum?
Objective: We report a case of late adult onset gradually progressive spastic paraplegia secondary to pathogenic variants in the POLG gene. Background: Many pathogenic mutations…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…The Clinical and Genetic Characteristics of HSP Patients by WES Sequencing Combined with MLPA
Objective: We aim to clarify the phenotype and gene spectrum of hereditary spastic paraplegia (HSP) and improve the molecular diagnosis. Background: Next-generation sequencing-based molecular assessment…Clinical and Genetic Characteristics in a Chinese Cohort of Complex Spastic Paraplegia Type 4
Objective: To delineate the genotypic and phenotypic spectrum of patients with complex SPG4 phenotype and further explore genotype-phenotype correlations. Background: Spastic paraplegia type 4 (SPG4),…Krabbe disease: A systematic review and evidence-based guideline for diagnosis
Objective: To summarize and analyze the clinical and genetic profile of patients with Krabbe disease worldwide, and further explore the genotype-phenotype relationships. Background: Krabbe disease…A Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Region
Objective: To systematically review existing literature and collect data on Hereditary Spastic Paraplegias(HSP) in the Middle East and North Africa(MENA), aiming to assess the prevalence…
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