Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers
Objective: To describe Kufor-Rakeb Syndrome (KRS) due to a novel ATP13A2 1459 C>T mutation in two Chinese siblings. Background: Kufor-Rakeb Syndrome is a rare autosomal…Pure ATXN10 repeat expansion causes Parkinson’s disease
Objective: Clinical and genetic characterization of a multigenerational family with spinocerebellar ataxia type 10 (SCA10) and parkinsonism. Background: Pentanucleotide repeat expansions of ATTCT in intron…Clinico-genetic correlation in Indian spinocerebellar ataxia (SCA1) patients
Objective: To report the Clinico-genetic correlation in Spinocerebellar ataxia type 1 (SCA1) Patients in Indian Population. Background: Spinocerebellar ataxia type 1(SCA1) is a neurodegenerative disease…Frequency of GBA1 and LRRK2 G2019S mutations, and body mass index in Ashkenazi Jews
Objective: To evaluate the frequency and characteristics of parkinsonism and Parkinson's disease (PD) attributable to LRRK2 G2019S and Glucocerebrosidase1 (GBA1) mutations in Ashkenazi Jewish (AJ)…Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia
Objective: To systemically screen some common spastic paraplegia genes (SPG) in the Taiwanese patients with apparently sporadic pure spastic paraplegia. Background: Hereditary spastic paraplegias (HSP)…A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report
Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response…Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease
Objective: To evaluate the impact of genetic variants in the Glucocerebrosidase gene (GBA) on cognitive impairment in a large cohort of Parkinson's disease (PD) patients…
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