Jonathan Carr
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View article: The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa
The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa Open
View article: Investigating the Blood Microbiome in Parkinson's Disease, Schizophrenia, and Posttraumatic Stress Disorder
Investigating the Blood Microbiome in Parkinson's Disease, Schizophrenia, and Posttraumatic Stress Disorder Open
Introduction Recent studies have challenged the idea of sterile blood, suggesting the presence of a blood microbiome. The detection of microbial nucleic acids in blood is thought to reflect the status of distant microbial niches, including…
View article: The concordance between the Montreal cognitive assessment and the repeatable battery for the assessment of neuropsychological status as a cognitive screening tool in a south African community sample
The concordance between the Montreal cognitive assessment and the repeatable battery for the assessment of neuropsychological status as a cognitive screening tool in a south African community sample Open
We aimed to compare the concordance between the Montreal Cognitive Assessment (MoCA) and the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), as cognitive screening tools to detect mild cognitive impairment (MCI)…
View article: Increased Resting Anterior Hippocampus Metabolism in Functional Tremor Patients: Fdg- Pet Study
Increased Resting Anterior Hippocampus Metabolism in Functional Tremor Patients: Fdg- Pet Study Open
View article: Associations between the Relative Abundance of Butyrate-Producing and Mucin-Degrading Taxa and Parkinson's Disease
Associations between the Relative Abundance of Butyrate-Producing and Mucin-Degrading Taxa and Parkinson's Disease Open
View article: Ictal <scp>SPECT</scp> Imaging Findings in Parkinson's Disease with Rapid Eye Movement Sleep Behavior Disorder
Ictal <span>SPECT</span> Imaging Findings in Parkinson's Disease with Rapid Eye Movement Sleep Behavior Disorder Open
Background Rapid eye movement sleep behavior disorder (RBD) is an established prodrome and symptom of synucleinopathies. The pathophysiology of this disorder has been well studied but there is a lack of functional imaging data to illustrat…
View article: Non-HD-Chorea: An Expanding Universe
Non-HD-Chorea: An Expanding Universe Open
The main aim of this article is to provide a practical diagnostic approach to phenocopies of Huntington disease (HD). These are defined as conditions characterized by a phenotype similar to HD but with no pathogenic repeat expansion in the…
View article: Modeling Lewy body disease with <i>SNCA</i> triplication iPSC-derived cortical organoids and identifying therapeutic drugs
Modeling Lewy body disease with <i>SNCA</i> triplication iPSC-derived cortical organoids and identifying therapeutic drugs Open
Aggregated α-synuclein (α-SYN) proteins, encoded by the SNCA gene, are hallmarks of Lewy body disease (LBD), affecting multiple brain regions. However, the specific mechanisms underlying α-SYN pathology in cortical neurons, crucial for LBD…
View article: Genome-wide association study of copy number variations in Parkinson’s disease
Genome-wide association study of copy number variations in Parkinson’s disease Open
Objective To investigate the impact of copy number variations (CNVs) on Parkinson’s disease (PD) pathogenesis using genome-wide data and explore their role in sporadic PD. Methods We analyzed CNV data from 11,035 PD patients (including 2,7…
View article: Association of Body Mass Index and Parkinson Disease
Association of Body Mass Index and Parkinson Disease Open
Using an independent data set (Courage-PD), we replicate an inverse association of genetically predicted BMI with PD, not explained by survival or incidence-prevalence biases. Moreover, reverse MR analyses support an inverse association be…
View article: Atypical Presentations of Huntington Disease‐like 2 in South African Individuals
Atypical Presentations of Huntington Disease‐like 2 in South African Individuals Open
Background Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more. Objective To describe the phenotypic variability of…
View article: Genetic screening of South African families with Parkinson’s disease
Genetic screening of South African families with Parkinson’s disease Open
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View article: Associations between the Relative Abundance of Butyrate-Producing and Mucin-Degrading Taxa and Parkinson's Disease
Associations between the Relative Abundance of Butyrate-Producing and Mucin-Degrading Taxa and Parkinson's Disease Open
View article: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and Human Immunodeficiency virus infection: dilemmas in diagnosis and management: a case series
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and Human Immunodeficiency virus infection: dilemmas in diagnosis and management: a case series Open
View article: <i>PTPA</i> variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
<i>PTPA</i> variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability Open
The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclei…
View article: Incidental neuroimaging findings in South African adult research participants with and without neuropsychiatric disorders
Incidental neuroimaging findings in South African adult research participants with and without neuropsychiatric disorders Open
View article: Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease Open
Our study further refines the genetic architecture of Chr 4 underlying the AAO of the PD phenotype through the identification of BST1 as a novel AAO PD locus. These findings open a new direction for the development of treatments to …
View article: RNA-seq analysis of gene expression profiles in posttraumatic stress disorder, Parkinson’s disease and schizophrenia identifies roles for common and distinct biological pathways
RNA-seq analysis of gene expression profiles in posttraumatic stress disorder, Parkinson’s disease and schizophrenia identifies roles for common and distinct biological pathways Open
View article: PET-CT in brain disorders: The South African context
PET-CT in brain disorders: The South African context Open
Positron emission tomography combined with X-ray computed tomography (PET-CT) has an established role in the management of brain disorders, but may be underutilised in South Africa. Possible barriers to access include the limited number of…
View article: Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease Open
Background: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson’s disease (PD). The prodromal phase of PD raises the possibility that these associations may be expla…
View article: Emerging evidence implicating a role for neurexins in neurodegenerative and neuropsychiatric disorders
Emerging evidence implicating a role for neurexins in neurodegenerative and neuropsychiatric disorders Open
Synaptopathies are brain disorders characterized by dysfunctional synapses, which are specialized junctions between neurons that are essential for the transmission of information. Synaptic dysfunction can occur due to mutations that alter …
View article: Copy Number Variation in Parkinson's Disease: An Update from <scp>Sub‐Saharan</scp> Africa
Copy Number Variation in Parkinson's Disease: An Update from <span>Sub‐Saharan</span> Africa Open
Data that support the findings of this study are available in the Supporting Information. Additional data are available on request.. Appendix S1: Supporting Information. Please note: The publisher is not responsible for the content or func…
View article: Author response for "Movement of Prion-Like alpha-Synuclein along the Gut-Brain Axis in Parkinson's Disease: A Potential Target of Curcumin Treatment"
Author response for "Movement of Prion-Like alpha-Synuclein along the Gut-Brain Axis in Parkinson's Disease: A Potential Target of Curcumin Treatment" Open
View article: Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools
Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools Open
Parkinson’s disease (PD) is a neurodegenerative disorder exhibiting Mendelian inheritance in some families. Next-generation sequencing approaches, including whole exome sequencing (WES), have revolutionized the field of Mendelian disorders…
View article: Author response for "Movement of Prion-Like alpha-Synuclein along the Gut-Brain Axis in Parkinson's Disease: A Potential Target of Curcumin Treatment"
Author response for "Movement of Prion-Like alpha-Synuclein along the Gut-Brain Axis in Parkinson's Disease: A Potential Target of Curcumin Treatment" Open
View article: Bacteria, Lipopolysaccharides, Amyloid and the Role of Iron Dysregulation in Parkinson’s Disease
Bacteria, Lipopolysaccharides, Amyloid and the Role of Iron Dysregulation in Parkinson’s Disease Open
Neuronal lesions in Parkinson’s disease (PD) are commonly associated with α-synuclein (α-Syn)-induced cell damage that are present both in the central and peripheral nervous systems of patients, with the enteric nervous s…
View article: Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease
Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease Open
The loss of ventral striatal dopaminergic neurons in Parkinson's disease (PD) predicts an impact on the reward system. The ventrostriatal system is involved in motivational processing and its dysfunction may be related to non-motor symptom…
View article: Parkinson's Disease Research on the African Continent: Obstacles and Opportunities
Parkinson's Disease Research on the African Continent: Obstacles and Opportunities Open
The burden of Parkinson's disease (PD) is becoming increasingly important in the context of an aging African population. Although PD has been extensively investigated with respect to its environmental and genetic etiology in various popula…
View article: Additional file 2 of Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients
Additional file 2 of Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients Open
Additional file 2: Table S2. Neurological Research panel information provided by Ion AmpliSeq™ (www.ampliseq.com).
View article: Additional file 3 of Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients
Additional file 3 of Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients Open
Additional file 3: Table S3. Intron regions covered as part of the exon targets.