Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson ’s disease
AbstractG2019S inLRRK2 is the most common mutation associated with Parkinson ’s disease (PD). Highest frequencies are in North African Arabic (30–41%) and Ashkenazi Jewish (6–30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2 % (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warr...
Source: Neurogenetics - September 5, 2019 Category: Genetics & Stem Cells Source Type: research
Nervous NDRGs: the N-myc downstream –regulated gene family in the central and peripheral nervous system
AbstractThe N-Myc downstream-regulated gene (NDRG) family consists of four members (NDRG1,NDRG2,NDRG3,NDRG4) that are differentially expressed in various organs and function in important processes, like cell proliferation and differentiation. In the last couple of decades, interest in this family has risen due to its connection with several disorders of the nervous system including Charcot-Marie-Tooth disease and dementia, as well as nervous system cancers. By combining a literature review with in silico data analysis of publicly available datasets, such as the Mouse Brain Atlas, BrainSpan, the Genotype-Tissue Expression (...
Source: Neurogenetics - September 3, 2019 Category: Genetics & Stem Cells Source Type: research
Acknowledgement to referees 2018/2019
(Source: Neurogenetics)
Source: Neurogenetics - September 2, 2019 Category: Genetics & Stem Cells Source Type: research
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
We report rare/novel missense variants from 154 Indian ALS patients, identified through targeted sequencing of 25 ALS-associated genes. As pathogenic variants could explain only a small percentage of ALS pathophysiology in our cohort, we investigated the frequency of tolerated and benign novel/rare variants, which could be potentially ALS susceptible. These variants were identified in 5.36% (8/149) of sporadic ALS (sALS) cases; with one novel variant each inERBB4,SETX,DCTN1, andMATR3; four rare variants, one each inPON2 andANG and two different rare variants inSETX. Identified variants were either absent or present at extr...
Source: Neurogenetics - August 19, 2019 Category: Genetics & Stem Cells Source Type: research
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
AbstractHereditary spastic paraparesis (HSP) is a progressive neurodegenerative disorder, characterized by progressive lower limb weakness and spasticity. Multiple genes are associated with both the pure and complicated HSP types. Our study is aimed at seeking for novel genetic basis of HSP in a family with two affected siblings. Genetic analysis using whole exome sequencing was conducted in a family quartet with two female siblings, who presented with complicated HSP featuring slowly progressive paraparesis, mild-moderate intellectual disability, normal head circumference (HC), and normal magnetic resonance imaging (MRI)....
Source: Neurogenetics - August 15, 2019 Category: Genetics & Stem Cells Source Type: research
