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…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:…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…Spastic paraparesis and paroxysmal dystonia associated with a novel mutation in ATP1A3 in a spanish family
Objective: To describe a new phenotype related to a novel mutation in ATP1A3 in two women from the same family Background: Mutations in ATP1A3 have…Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…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…
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