Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

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 are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision.

Structural and functional connectivity of vestibular graviceptive to sensory and motor circuits.

Processing of vestibular graviceptive signals from the inner ear is essential for spatial perception, bipedal stance, locomotion, and navigation in a three-dimensional world. Acute unilateral ischaemic lesions along the central vestibular pathways lead to deficits of gravitational processing which can be quantified as perceptual tilts of the subjective visual vertical (SVV). For ipsiversive and contraversive directional tilts, dichotomous networks were documented from the brainstem to the thalamus.

Introducing the pictogram-based ocular motor and visual-perceptual symptom scale: a multinational, cross-cultural feasibility study.

Background: Patients with vestibular and ocular motor disorders often perceive oscillopsia, diplopia or visual hallucinations as their chief complaint. However, they often struggle with verbalizing these subjective ocular motor and visual-perceptual signs precisely, which complicates a correct diagnostic classification of the suspected pathogenic mechanism.

Methods: In this multinational and cross-cultural feasibility study, a novel pictogram-based scale of 10 common ocular motor and visual-perceptual symptoms (called Pictogram Ocular Motor and Visual-Perceptual Symptom Scale, POVSS) was developed and validated.

Diagnostic challenges in vestibular migraine-clinical differentiation from Menière's disease and discrepancies with current classification criteria.

Background: Vestibular migraine (VM) and Menière's disease (MD) are spontaneous episodic vestibular syndromes and often present with overlapping features, making clinical differentiation challenging. This study aimed to (1) identify key features distinguishing VM from MD and (2) investigate discrepancies between expert diagnosis and International Classification of Vestibular Disorders (ICVD) criteria for VM.

Methods: We analyzed data from patients diagnosed with VM or MD at the tertiary dizziness center of LMU Munich.

Diagnosis and treatment of vertigo and dizziness : Interdisciplinary guidance paper for clinical practice.

Background: Vertigo and dizziness belong to the most common leading symptoms in clinical practice. Their differential diagnosis, however, often imposes a challenge.

Objective: This work aims to provide evidence-based and practice-oriented recommendations for diagnosis and treatment of vertigo and dizziness for primary care providers.

Prospective quantitative evaluation of gait and stance in patients with acute vertigo and dizziness.

Background: Patients with acute vertigo and dizziness often suffer from gait ataxia and postural imbalance. However, detailed and quantitative investigations of gait and stance are largely missing during the acute stage of symptoms.

Methods: This study explores whether assessing objective gait and stance parameters can help differentiate between peripheral and central causes of isolated acute vertigo and dizziness.

[Differential diagnosis of dizziness: what's the contribution of Artificial Intelligence?].

Dizziness is one of the most common reasons for medical consultations. The interdisciplinary range of differential diagnoses often leads to difficulties in proper classification. Artificial Intelligence and machine learning can assist through data-driven algorithms and facilitate the collection of important clinical signs as digital biomarkers.

From vestibular implant to cortex: electrically evoked vestibular responses.

Purpose: Understanding central vestibular pathways remains challenging and requires innovative measurement approaches. A vestibular implant offers unique access through specific electrical stimulation of the vestibular end organ. This study explored the feasibility of using vestibular implant stimulation to obtain vestibular evoked potentials, using electroencephalography (EEG).

[Diagnosis and treatment of vertigo and dizziness : Interdisciplinary guidance paper for clinical practice. German version].

Background: Vertigo and dizziness belong to the most common leading symptoms in clinical practice. Their differential diagnosis, however, often poses a challenge.

Objective: This work aims to provide evidence-based and practice-oriented recommendations for diagnosis and treatment of vertigo and dizziness in primary care.

Pro-histaminergic drug restores balance, promotes microgliogenesis and modulates neuroinflammation after vestibular injury.

Vestibular compensation is a neurobiological process that allows the recovery of impaired vestibular functions after unilateral vestibular damage. Among the post-injury plasticity mechanisms expressed in the vestibular nuclei (VN) that promote the restoration of balance function, neurogliogenesis and excitability changes appear to be in the forefront. At the central level, the vestibular syndrome expression results from an electrophysiological imbalance between both VN, known to activate the central histaminergic system.

Vestibular dysfunction: a hidden risk factor for Alzheimer's disease.

Background: London taxi drivers' navigationally challenged hippocampi are known to be enlarged, and reduced Alzheimer's disease (AD)-related mortality has recently been shown in similarly well-versed drivers, implying a neuroprotective effect through hippocampal engagement. Vestibular function has been linked to hippocampal size, suggesting that vestibular input may influence AD risk.

Methods: Including 16 known modifiable lifestyle factors as covariates, we analyzed UK Biobank (UKB) volunteers aged over 55 years and without dementia at baseline to assess how peripheral vestibular dysfunction (PVD) influences the likelihood of an AD diagnosis.

Sex differences in caloric nystagmus intensity: Should reference values be updated?

Bithermal caloric irrigation of the horizontal semicircular canals is a key method of neurotological diagnostics, allowing the detection of peripheral vestibular hypofunction in the low-frequency range. Current diagnostic criteria for unilateral vestibulopathy (UVP), bilateral vestibulopathy (BVP), and presbyvestibulopathy (PVP) rely on gender-neutral absolute or relative metrics. Here, we analyzed all bithermal water caloric examinations performed in the German Center for Vertigo and Balance Disorders (DSGZ) between 07/2018 and 01/2024 and calculated the total caloric reactivity (TR).

Convergent construct validity and test-retest reliability of both German versions of the original and the revised Niigata PPPD Questionnaire: NPQ and NPQ-R.

Background: Persistent Postural-Perceptual Dizziness (PPPD) is a frequent chronic functional disorder that manifests with dizziness, unsteadiness, or non-spinning vertigo present for at least 3 months. Characteristic provocation factors are moving or complex visual stimuli and exclusion of organic diseases. To assess the severity and impact of PPPD, Japanese researchers developed the Niigata PPPD Questionnaire (NPQ).

Postural imbalance without visual input is associated with specific neuropsychological deficits in older adults - results from the LIFE-adult study.

Introduction: Modifiable risk factors play an important role in preventing dementia and reducing its progression. Regular physical activity already in midlife, which relies on intact multisensory balance control, can help to decrease the risk of dementia. However, our understanding of the relationship between postural balance and cognitive functions remains limited.

Neuronal and oligodendroglial, but not astroglial, tau translates to in vivo tau PET signals in individuals with primary tauopathies.

Tau PET has attracted increasing interest as an imaging biomarker for 4-repeat (4R)-tauopathy progressive supranuclear palsy (PSP). However, the translation of in vitro 4R-tau binding to in vivo tau PET signals is still unclear. Therefore, we performed a translational study using a broad spectrum of advanced methodologies to investigate the sources of [F]PI-2620 tau PET signals in individuals with 4R-tauopathies, including a pilot PET autopsy study in patients.

[Differential diagnosis of dizziness: what's the contribution of Artificial Intelligence?].

Dizziness is one of the most common reasons for medical consultations. The interdisciplinary range of differential diagnoses often leads to difficulties in proper classification. Artificial Intelligence and machine learning can assist through data-driven algorithms and facilitate the collection of important clinical signs as digital biomarkers.

Combining cerebrospinal fluid and PI-2620 tau-PET for biomarker-based stratification of Alzheimer's disease and 4R-tauopathies.

Introduction: Recent advances in biomarker research have improved the diagnosis and monitoring of Alzheimer's disease (AD), but in vivo biomarker-based workflows to assess 4R-tauopathy (4RT) patients are currently missing. We suggest a novel biomarker-based algorithm to characterize AD and 4RTs.

Methods: We cross-sectionally assessed combinations of cerebrospinal fluid measures (CSF p-tau and t-tau) and F-PI-2620 tau-positron emission tomography (PET) in patients with AD (n = 64), clinically suspected 4RTs (progressive supranuclear palsy or corticobasal syndrome, n = 82) and healthy controls (n = 19).

Precision Balance Assessment in Parkinson's Disease: Utilizing Vision-Based 3D Pose Tracking for Pull Test Analysis.

Postural instability is a common complication in advanced Parkinson's disease (PD) associated with recurrent falls and fall-related injuries. The test of retropulsion, consisting of a rapid balance perturbation by a pull in the backward direction, is regarded as the gold standard for evaluating postural instability in PD and is a key component of the neurological examination and clinical rating in PD (e.g.

No evidence for effects of low-intensity vestibular noise stimulation on mild-to-moderate gait impairments in patients with Parkinson's disease.

Background: Gait impairment is a key feature in later stages of Parkinson's disease (PD), which often responds poorly to pharmacological therapies. Neuromodulatory treatment by low-intensity noisy galvanic vestibular stimulation (nGVS) has indicated positive effects on postural instability in PD, which may possibly be conveyed to improvement of dynamic gait dysfunction.

Objective: To investigate the effects of individually tuned nGVS on normal and cognitively challenged walking in PD patients with mild-to-moderate gait dysfunction.

TMS of the left primary motor cortex improves tremor intensity and postural control in primary orthostatic tremor.

A ponto-cerebello-thalamo-cortical network is the pathophysiological correlate of primary orthostatic tremor. Affected patients often do not respond satisfactorily to pharmacological treatment. Consequently, the objective of the current study was to examine the effects of a non-invasive neuromodulation by theta burst repetitive transcranial magnetic stimulation (rTMS) of the left primary motor cortex (M1) and dorsal medial frontal cortex (dMFC) on tremor frequency, intensity, sway path and subjective postural stability in primary orthostatic tremor.

Histaminergic System and Vestibular Function in Normal and Pathological Conditions.

Most neurotransmitter systems are represented in the central and peripheral vestibular system and are thereby involved both in normal vestibular signal processing and the pathophysiology of vestibular disorders. However, there is a special relationship between the vestibular system and the histaminergic system. The purpose of this review is to document how the histaminergic system interferes with normal and pathological vestibular function.