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),…Spinocerebellar ataxia type 28 presenting as spastic paraparesis
Objective: To describe a patient with spinocerebellar ataxia type 28 (SCA28) presenting with isolated spastic paraparesis. Background: Autosomal dominant (AD) mutations in the ATPase family…Rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia.
Objective: Describe a rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia. Background: SPG7-related spastic paraplegia (SPG7) is a hereditary spastic paraplegia caused by…Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders
Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…A novel truncating variant in UBAP1 gene causing hereditary spastic paraplegia type 80
Objective: To describe a novel truncating variant in UBAP1 gene in a first Malay population, and expand the genotype and phenotype. Background: Hereditary Spastic paraplegia…
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