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…Expanding the spectrum of Hereditary Spastic Paraplegia: An interesting Case .
Objective: We describe an interesting case of a young adult with a 5 year progressive history of spastic quadripareisis , cognitive decline, seizures and pseudobulbar…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…First case of sporadic ATP6AP2 Mutation reported in Asia in a Parkinson’s Disease patient
Objective: Genetic analysis of Parkinson's Disease (PD) with features of spasticity by Whole Exome Sequencing (WES) and use of its result for treatment modification to…Identification of atlastin genetic modifiers in a Hereditary Spastic Paraplegia model in Drosophila
Objective: To identify genetic modifiers of decreased locomotion and neuromuscular junction defects associated with atlastin knockdown in motor neurons. Background: Hereditary spastic paraplegias (HSPs) are…Kufor-Rakef syndrome, report of two unrelated cases from Chile studied with DAT-PET
Objective: To describe two previously unreported, unrelated cases of atypical parkinsonism caused by mutations in ATP13A2gene. Background: ATP13A2 gene, previously known as PARK 9, has recently…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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