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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: Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing Open
Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia ar…
View article: Validation of clinical ratings of cervical dystonia using computer-generated avatars
Validation of clinical ratings of cervical dystonia using computer-generated avatars Open
Both rating systems (TWSTRS and Col-Cap) show moderate accuracy in assessing head and neck positioning from computer-generated avatars, with Col-Cap showing slightly higher overall accuracy but struggling with precise differentiation betwe…
View article: Deep Brain Stimulation for <scp> <i>VPS16</i> </scp> ‐Related Dystonia: A Multicenter Study
Deep Brain Stimulation for <span> <i>VPS16</i> </span> ‐Related Dystonia: A Multicenter Study Open
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16 ‐related dystonia. Methods This observational study collected preoperative and postoperative demographic,…
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: <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: Structure–function association of the cerebellar motor network is altered in isolated cervical dystonia
Structure–function association of the cerebellar motor network is altered in isolated cervical dystonia Open
View article: Mood Lability Induced by Pallidal Deep Brain Stimulation in a Patient with Meige Syndrome
Mood Lability Induced by Pallidal Deep Brain Stimulation in a Patient with Meige Syndrome Open
View article: Transcranial magnetic stimulation and new generation deep brain stimulation devices – a combined ex vivo and computational study
Transcranial magnetic stimulation and new generation deep brain stimulation devices – a combined ex vivo and computational study Open
View article: The arrow of time in Parkinson’s disease
The arrow of time in Parkinson’s disease Open
View article: Response to: ‘Hyperbinding’ in functional movement disorders: role of supplementary motor area efferent signalling
Response to: ‘Hyperbinding’ in functional movement disorders: role of supplementary motor area efferent signalling Open
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
Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (∼25%) and the identification of several disease-linked genes, the etiology in…
View article: The <i>R1441C-Lrrk2</i> mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice
The <i>R1441C-Lrrk2</i> mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice Open
Age is the greatest risk factor for many neurodegenerative diseases, yet immune system aging, a contributor to neurodegeneration, is understudied. Genetic variation in the LRRK2 gene affects risk for both familial and sporadic Parkinson’s …
View article: Atrophy of cerebellar lobule VI and primary motor cortex in cervical dystonia - a region of interest-based study
Atrophy of cerebellar lobule VI and primary motor cortex in cervical dystonia - a region of interest-based study Open
Background Recently, a network model of cervical dystonia (CD) has been adopted that implicates nodes and pathways involving cerebellar, basal-ganglia and cortico-cortical connections. Although functional changes in the cerebello-thalamo-c…
View article: A multi-network model of Parkinson’s disease tremor: exploring the finger-dimmer-switch theory and role of dopamine in thalamic self-inhibition
A multi-network model of Parkinson’s disease tremor: exploring the finger-dimmer-switch theory and role of dopamine in thalamic self-inhibition Open
Background . Tremor is a cardinal symptom of Parkinson’s disease (PD) that manifests itself through complex oscillatory activity across multiple neuronal populations. According to the finger-dimmer-switch (FDS) theory, tremor is triggered …
View article: α‐Methylacyl‐<scp>CoA</scp> Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia
α‐Methylacyl‐<span>CoA</span> Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia Open
Peroxisomal enzyme deficiencies are disorders caused by the lack or malfunction of one of the 60 known peroxisomal enzymes and manifest with diverse clinical signs.1 α-Methylacyl-CoA racemase (AMACR) deficiency is a rare, autosomal recessi…
View article: GPi/GPe borderland– a potential sweet spot for deep brain stimulation for chorea in Huntington’s disease?
GPi/GPe borderland– a potential sweet spot for deep brain stimulation for chorea in Huntington’s disease? Open
View article: Premotor cortical beta synchronization and the network neuromodulation of externally paced finger tapping in Parkinson's disease
Premotor cortical beta synchronization and the network neuromodulation of externally paced finger tapping in Parkinson's disease Open
Parkinson's disease (PD) is characterized by the disruption of repetitive, concurrent and sequential motor actions due to compromised timing-functions principally located in cortex-basal ganglia (BG) circuits. Increasing evidence suggests …
View article: Large‐Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
Large‐Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes Open
Background Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucida…
View article: Increased beta synchronization underlies perception-action hyperbinding in functional movement disorders
Increased beta synchronization underlies perception-action hyperbinding in functional movement disorders Open
Functional movement disorders are amongst the most common and disabling neurological conditions, placing a significant burden on the healthcare system. Despite the frequency and importance of functional movement disorders, our understandin…
View article: GGC expansion in<i>ZFHX3</i>causes SCA4 and impairs autophagy
GGC expansion in<i>ZFHX3</i>causes SCA4 and impairs autophagy Open
Despite linkage to 16q in 1996, the mutation for spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, escaped detection for 25 years. Using long- read PacBio-HiFi and ONT-Nanopre sequencing and bioinformatic an…
View article: The<i>R1441C-LRRK2</i>mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner
The<i>R1441C-LRRK2</i>mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner Open
Considering age is the greatest risk factor for many neurodegenerative diseases, aging, in particular aging of the immune system, is the most underappreciated and understudied contributing factor in the neurodegeneration field. Genetic var…
View article: Cerebellar Modulation of Sensorimotor Associative Plasticity Is Impaired in Cervical Dystonia
Cerebellar Modulation of Sensorimotor Associative Plasticity Is Impaired in Cervical Dystonia Open
Background In recent years, cervical dystonia (CD) has been recognized as a network disorder that involves not only the basal ganglia but other brain regions, such as the primary motor and somatosensory cortex, brainstem, and cerebellum. S…
View article: Disability and persistent motor deficits are linked to structural crossed cerebellar diaschisis in chronic stroke
Disability and persistent motor deficits are linked to structural crossed cerebellar diaschisis in chronic stroke Open
Brain imaging has significantly contributed to our understanding of the cerebellum being involved in recovery after non‐cerebellar stroke. Due to its connections with supratentorial brain networks, acute stroke can alter the function and s…
View article: Perception–Action Integration Is Altered in Functional Movement Disorders
Perception–Action Integration Is Altered in Functional Movement Disorders Open
Background Although functional neurological movement disorders (FMD) are characterized by motor symptoms, sensory processing has also been shown to be disturbed. However, how the integration of perception and motor processes, essential for…
View article: Genotype–phenotype correlation and treatment effects in young patients with<i>GNAO1</i>-associated disorders
Genotype–phenotype correlation and treatment effects in young patients with<i>GNAO1</i>-associated disorders Open
Background Patients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement…
View article: Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion Open
Objective Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review su…
View article: Smaller Cerebellar Lobule VIIb is Associated with Tremor Severity in Parkinson’s Disease
Smaller Cerebellar Lobule VIIb is Associated with Tremor Severity in Parkinson’s Disease Open
Alterations in the cerebellum’s morphology in Parkinson’s disease (PD) point to its pathophysiological involvement in this movement disorder. Such abnormalities have previously been attributed to different PD motor subtypes. The aim of the…
View article: Impaired Metacognition of Voluntary Movement in Functional Movement Disorder
Impaired Metacognition of Voluntary Movement in Functional Movement Disorder Open
Background Motor symptoms in functional movement disorders (FMDs) are experienced as involuntary but share characteristics of voluntary action. Clinical and experimental evidence indicate alterations in monitoring, control, and subjective …
View article: Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration
Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration Open
Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) caused by loss-of-function variants in WDR45. The underlying mechanism of iron accumulation in WDR45 deficienc…