Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…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…Spectrum of Hereditary Spastic Paraparesis (HSP): A study from India
Objective: To explore the genetic spectrum of hereditary spastic paraparesis in Indian patients. Background: HSP belongs to a heterogenous group of monogenic neurological disorders with…Stiff-Person Syndrome: Diagnosis and Experimental Models
Objective: Locked-in syndrome is a syndrome that is characterized by the lack of an adequate response of the patient to external, including verbal, stimuli due…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Adrenoleukodystrophy Spastic Gait: Treatment with Fampridine
Objective: Report a possible alternative treatment for spastic gait in 2 adult patients with adrenoleukodystrophy. Background: X-linked adrenoleukodystrophy is a peroxisomal hereditary disease with tissue…Neuronal Inclusion Formation and Axonal Degeneration in Mutant TFG Transgenic Mice
Objective: To investigate the TFG pathology by analyzing transgenic mice expressing mutant TFG protein. Background: It has been demonstrated that missense variants in TFG gene…A C12orf65 mutation-related autosomal recessive hereditary spastic paraplegia is associated with autophagy induction
Objective: Spastic paraplegia type 55 (SPG55) is an autosomal recessive complicated HSP caused by homozygous mutation in the C12orf65 gene (613541) on chromosome 12q24. The…Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): A Paradigm of Childhood-Onset Hereditary Spastic Paraplegia Caused By Defective Protein Trafficking
Objective: Aims of this study include: 1) to generate induced pluripotent stem cell (iPSC)-derived neurons from patients with AP-4-associated HSP; 2) to characterize these neurons…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.