Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
Objective: To investigate whether the combination of the X-linked dystonia-parkinsonism (XDP) haplotype and skewed X-chromosome inactivation (XCI) underlies the penetrance of XDP in women. Background:…Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations
Objective: To characterize the phenotypic and genotypic spectra in Wilson disease (WD) and to investigate the relationships between the neurological and hepatic phenotypes and the…A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia
Objective: To present reported two siblings of PLAN representing complicated HSP. Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of diseases characterized by…PLA2G6-related juvenile-onset Parkinsonism: clinical features and cognitive profile in a cohort of Chinese patients
Objective: Among young or juvenile onset Parkinson (PD) patients, we assessed cognitive and clinical performances, comparing homozygotes and compound heterozygotes who carry PLA2G6 pathogenic mutations…A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene
Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis
Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…
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