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…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…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…Challenges in diagnosis of hereditary ataxia and spastic paraplegias
Objective: We aimed to investigate patients with hereditary ataxias (HA) and spastic paraplegias (HSP) followed in our hospital and to evaluate the percentage of patients…Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…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…
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