Christine Klein
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Neuronal Distribution of Tau Pathology, Microglial Gene Expression Trajectories, and Resilience to Alzheimer disease Open
Importance Some individuals are capable of tolerating Alzheimer disease neuropathological changes (ADNC) without manifesting clinical symptoms. Elucidating the neuropathological, and molecular mediators may facilitate the identification of…
How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson’s disease Open
Importance Current recommendations for genetic testing in Parkinson’s disease (PD) prioritize groups of patients based on age at onset (AAO) and family history (FH). The increasing importance of identifying genetic PD for personalized coun…
View article: <scp> <i>RAB32</i> </scp> ‐Linked Parkinson's Disease: Deep Phenotyping, <scp>MDSGene</scp> Literature Review, and Application of <scp>SynNeurGe</scp> Criteria
<span> <i>RAB32</i> </span> ‐Linked Parkinson's Disease: Deep Phenotyping, <span>MDSGene</span> Literature Review, and Application of <span>SynNeurGe</span> Criteria Open
Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce. Objectives Our aim was to clinically and biologically characterize individuals w…
View article: Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease Open
Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants …
View article: Corrigendum to “Genetics of upper limb tremor in clinical practice: a systematic literature review” [Parkinsonism and Related disorders volume “in press” (2025) PRD 107981]
Corrigendum to “Genetics of upper limb tremor in clinical practice: a systematic literature review” [Parkinsonism and Related disorders volume “in press” (2025) PRD 107981] Open
Introduction: According to the Tremor Study Group's consensus statement of the International Parkinson and Movement Disorder Society (MDS), genetics are crucial in determining tremor etiology. However, the pace of genetic discovery in move…
View article: Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease
Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease Open
Background With third-generation long-read sequencing (LRS) platforms and optical genome mapping technologies (OGM), the ability to detect large and complex structural variants (SVs) is rapidly advancing. This has led to the discovery of n…
View article: Translating the Transcriptome: A Connectomics Approach for Gene-Network Mapping and Clinical Application
Translating the Transcriptome: A Connectomics Approach for Gene-Network Mapping and Clinical Application Open
Gene expression shapes the brain's functional connectome, yet it is unclear whether genes linked to the same disorder converge on shared networks. We introduce gene network mapping-a framework combining spatial transcriptomics with normati…
View article: Large-scale copy number variant analysis in genes linked to Parkinson´s disease
Large-scale copy number variant analysis in genes linked to Parkinson´s disease Open
Genetic studies of Parkinson's disease (PD) have focused on single nucleotide variants (SNVs), with limited attention to copy number variants (CNVs). This study investigates CNVs in PD using candidate PD-related genes and genome-wide appro…
View article: The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance Open
Background: The genetic architecture of Parkinson's disease (PD) varies considerably across ancestries, yet most genetic studies have focused on individuals of European descent, limiting insights into the genetic landscape of PD at a globa…
View article: Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease Open
Background Dystonia and Parkinson’s disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective To assess the frequency of dystonia-linked pathogenic variants in PD. Methods …
View article: Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study Open
Genetic testing for Israeli PD patients is beneficial, while the yield is primarily attributed to LRRK2 and GBA1 variants.
View article: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing Open
Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, und…
View article: The age at onset of LRRK2 p.Gly2019Ser Parkinson’s disease across ancestries and countries of origin
The age at onset of LRRK2 p.Gly2019Ser Parkinson’s disease across ancestries and countries of origin Open
Objectives The LRRK2 p.Gly2019Ser pathogenic variant has reduced penetrance and presents a wide range of age at onset (AAO) in patients with Parkinson’s disease (PD). We aim to elucidate differences in the cumulative incidence of LRRK2 p.G…
View article: <i>RAB32</i>-linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria
<i>RAB32</i>-linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria Open
Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson’s disease (PD), for which detailed phenotypic information is currently scarce. Objectives To clinically and biologically characterize individuals with PARK- RA…
View article: Smartphones, citizen science, and the fight against gender-based violence in rural Tanzania
Smartphones, citizen science, and the fight against gender-based violence in rural Tanzania Open
Introduction In rural regions where gender-based violence (GBV) is rampant and communities are largely offline and off-the-map, technology-enabled interventions are emerging to enhance women's quality of life. These initiatives offer oppor…
View article: The role of dopaminergic medication and specific pathway alterations in idiopathic and <i>PRKN/PINK1</i> -mediated Parkinson’s disease
The role of dopaminergic medication and specific pathway alterations in idiopathic and <i>PRKN/PINK1</i> -mediated Parkinson’s disease Open
Parkinson’s disease (PD) is the second most common neurodegenerative disease, with a rapidly increasing prevalence worldwide. Biomarkers monitoring state and progression are urgently needed, and metabolomics from easily accessible biofluid…
View article: <i>FGF14</i> repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?
<i>FGF14</i> repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B? Open
Deep intronic FGF14 repeat expansions have been identified as a frequent genetic cause of late-onset cerebellar ataxias, explaining ≤30% of patients. Interruptions between repeats have previously been identified to impact the penetrance in…
View article: Usage of an Alternative Translation Start Site in<i>PRKN</i>mutation carriers: Key to Later-Onset Parkinson’s Disease and a Novel Therapeutic Target
Usage of an Alternative Translation Start Site in<i>PRKN</i>mutation carriers: Key to Later-Onset Parkinson’s Disease and a Novel Therapeutic Target Open
Biallelic pathogenic variants of PRKN, encoding the Parkin RBR E3 ubiquitin protein ligase, are the most common known cause of autosomal recessive Parkinson’s disease (PD). PARK- PRKN is characterized by an early median age at onset (AAO) …
View article: Definition and Classification of Dystonia
Definition and Classification of Dystonia Open
Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its ap…
View article: Genotype–Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review
Genotype–Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review Open
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype–phenotype correlations of GLB1, S…
View article: Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with monogenic and idiopathic Parkinson’s disease
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with monogenic and idiopathic Parkinson’s disease Open
Parkinson’s disease (PD) is the fastest growing neurodegenerative disorder. Lack of efficient early diagnostic tools highlights the critical necessity for novel approaches in biomarker discovery. We propose an untargeted metabolomics appro…
View article: Validation of a Mitochondrial Polygenic Score for Parkinson’s Disease
Validation of a Mitochondrial Polygenic Score for Parkinson’s Disease Open
Background Mitochondrial dysfunction is a key player in Parkinson’s disease (PD) pathogenesis. Mitochondrial polygenic scores (MGS) may be associated with PD but require validation across diverse populations. Objective To validate the asso…
View article: PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease Open
Leucine-rich repeat kinase 2 (LRRK2) phosphorylates a subset of Rab GTPases that regulate receptor trafficking; activating mutations in LRRK2 are linked to Parkinson’s disease. Rab phosphorylation is a transient event that can be reversed …