Childhood-Onset Spastic Paraparesis Followed by Early-Onset Parkinsonism: A Genetically Unresolved Case of Complicated Hereditary Spastic Paraplegia
Objective: to present a rare case of patient with childhood-onset spastic paraparesis who developed early-onset Parkinson's disease. Background: Approximately 21% of HSP patients develop parkinsonism,…Late-Onset Ataxia, Tremor and Spastic Paraparesis associated with the a Novel CCDC88C Variant: Expanding the Phenotypic Spectrum of mutation in the CCDC88C gene
Objective: to describe a Croatian family presenting with late-onset spastic paraparesis and cognitive decline associated with a distinct amino acid substitution. Background: Variants in CCDC88C…A Novel SPG11 Splice-Site Mutation in Hereditary Spastic Paraplegia: Clinical, Radiologic, and Genetic Insights from the First Philippine Case
Objective: To report the first genetically confirmed case of SPG11-associated hereditary spastic paraplegia (HSP) in the Philippines, featuring a previously undocumented splice-site mutation and comprehensive…Identification of Novel FA2H Mutations in Patients with Hereditary Spastic Paraplegia Type 35 (SPG35)
Objective: We reported three cases of SPG35 caused by compound heterozygous mutations in the FA2H gene, with ataxia as the initial clinical manifestation. Among the…Pelizaeus Merzbacher like disease (PMLD): Neuroradiological Phenotyping
Objective: To present an unusual case report. Background: Pelizaeus Merzbacher like disease (PMLD) is a hypomyelination disorder, usually manifesting in neonatal or an early infantile…RTN2 Variants Expand the ALS–Hereditary Spastic Paraplegia Disease Spectrum
Objective: To investigate the clinical and molecular characteristics of amyotrophic lateral sclerosis (ALS) families carrying variants in the RTN2 gene (SPG12), associated with hereditary spastic…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…
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