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…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…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…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…
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