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:…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…Autosomal Recessive Spastic Ataxia Secondary a Novel SPG7 Gene Pathogenic Variant: a Case Report
Objective: The primary aim of this investigation is to describe a newly identified pathogenic variant within the SPG7 gene observed in a clinical presentation of…Adult Onset Spastic Paraplegia in TUBB4A Leukodystrophy
Objective: Introduction: Leukodystrophies are primarily known as childhood diseases, but recent advances in genetic testing and brain imaging have led to an increase in reports…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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