Andreas Puschmann
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View article: TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism Open
Dystonia is a movement disorder characterized by genetic and clinical heterogeneity. A recurring p.(Glu303del)-deletion in TOR1A is a well-established cause for DYT-TOR1A (DYT1), an autosomal dominant early-onset isolated dystonia. TOR1A e…
View article: GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population
GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population Open
Variants in GBA1 are important genetic risk factors in Parkinson's disease (PD). GBA1 T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A…
View article: Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W Open
Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset Parkinson disease. The pathogenic p.R275W substitution in PRKN is the most frequent substitution observed in patients, and thus far has been character…
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: Maculopathy and adult‐onset ataxia in patients with biallelic <scp><i>MFSD8</i></scp> variants
Maculopathy and adult‐onset ataxia in patients with biallelic <span><i>MFSD8</i></span> variants Open
Background Biallelic variants in the major facilitator superfamily domain containing 8 gene ( MFSD8 ) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 di…
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: Is<i>GBA1</i>T369M not a risk factor for Parkinson’s disease in the Swedish population?
Is<i>GBA1</i>T369M not a risk factor for Parkinson’s disease in the Swedish population? Open
Variants in GBA1 are important genetic risk factors in Parkinson’s disease (PD). GBA1 T369M has been linked to an ∼80% increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A …
View article: Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants Open
Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients…
View article: The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases Open
A positron emission tomography (PET) tracer detecting α-synuclein pathology will improve the diagnosis, and ultimately the treatment of α-synuclein-related diseases. Here we show that the PET ligand, [ 18 F]ACI-12589, displays good in vitr…
View article: Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project Open
Parkinson’s disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or s…
View article: Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia Open
Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause…
View article: Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers Open
Background Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective We used results from genome‐wide as…
View article: Embracing Monogenic Parkinson's Disease: The <scp>MJFF</scp> Global Genetic <scp>PD</scp> Cohort
Embracing Monogenic Parkinson's Disease: The <span>MJFF</span> Global Genetic <span>PD</span> Cohort Open
Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated numb…
View article: Patients’ Perspective in Hereditary Ataxia
Patients’ Perspective in Hereditary Ataxia Open
Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these dis…
View article: Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover Open
The ubiquitin (Ub) kinase-ligase pair PINK1-PRKN mediates the degradation of damaged mitochondria by macroautophagy/autophagy (mitophagy). PINK1 surveils mitochondria and upon stress accumulates on the mitochondrial surface where it phosph…
View article: Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke Open
This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and …
View article: The Interaction between <scp><i>HLA‐DRB1</i></scp> and Smoking in Parkinson's Disease Revisited
The Interaction between <span><i>HLA‐DRB1</i></span> and Smoking in Parkinson's Disease Revisited Open
Background Two studies that examined the interaction between HLA‐DRB1 and smoking in Parkinson's disease (PD) yielded findings in opposite directions. Objective To perform a large‐scale independent replication of the HLA‐DRB1 × smoking int…
View article: Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke Open
This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and …
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 delay t…
View article: Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3 Open
Background and purpose Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures. Methods To evaluate total tau (t‐tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy‐terminal h…
View article: Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover Open
The ubiquitin (Ub) kinase-ligase pair PINK1-PRKN mediates the degradation of damaged mitochondria by macroautophagy/autophagy (mitophagy). PINK1 surveils mitochondria and upon stress accumulates on the mitochondrial surface where it phosph…
View article: Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover Open
The ubiquitin (Ub) kinase-ligase pair PINK1-PRKN mediates the degradation of damaged mitochondria by macroautophagy/autophagy (mitophagy). PINK1 surveils mitochondria and upon stress accumulates on the mitochondrial surface where it phosph…
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…