Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study
Objective: To describe the epidemiological, clinical, and genetic features of patients affected by hereditary spastic paraplegia (HSP) in an international cohort of affected individuals.To describe…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…Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant
Objective: To identify the underlying genetic cause of a childhood-onset spasticity-ataxia-tremor syndrome in a 31-year-old woman. Background: Biallelic variants in VPS13D have been linked to…Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…Milder presentation in two compound heterozygote cases of spastic paraplegias type 5
Objective: Describing two mild compound heterozygote SPG5A cases. Background: Hereditary spastic paraplegia type 5 (SPG5A) is an autosomal recessive neurodegenerative disease caused by variants in…
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