Publications by authors named "Anna Hussl"

Background: Advanced imaging techniques have been studied for differential diagnosis between PD, MSA, and PSP.

Objectives: This study aims to validate the utility of individual voxel-based morphometry techniques for atypical parkinsonism in a blinded fashion.

Methods: Forty-eight healthy controls (HC) T1-WI were used to develop a referential dataset and fit a general linear model after segmentation into gray matter (GM) and white matter (WM) compartments.

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Background: An absent dorsolateral nigral hyperintensity (DNH) is a common finding in patients with neurodegenerative parkinsonism at high or ultra-high field susceptibility-weighted magnetic resonance imaging (SWI).

Objective: Despite increasing use of high field magnetic resonance imaging (MRI) in specialized centers, these scanners are still frequently unavailable in primary care or outpatient facilities and underdeveloped or emerging countries. Therefore, the aim of the present study was to evaluate the diagnostic utility of DNH assessment at 1.

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Background: Anti-IgLON5 disease is an autoimmune encephalopathy with sleep disturbances as a hallmark in the majority of reported cases. Additional clinical symptoms are heterogenous and include movement disorders, bulbar dysfunction, autonomic disorders, and neurocognitive impairment.

Case: Here, we report the case of an 87-year-old woman presenting with isolated progressive hemichorea.

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Background: Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported.

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Background: The pathophysiology of cervical dystonia is still unclear. Recent evidence points toward a network disorder affecting several brain areas. The objective of this study was to assess the saccadic inhibition as a marker of corticostriatal function in cervical dystonia.

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Introduction: Quantitative MR planimetric measurements were reported to discriminate between progressive supranuclear palsy (PSP) and non-PSP parkinsonism, yet few data exist on the usefulness of these markers in early disease stages.

Methods: The pons-to-midbrain area ratio (P/M) and the Magnetic Resonance Parkinsonism Index (MRPI) as well as new indices, termed P/M2.0 and MRPI2.

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Objectives: MR planimetry of brainstem structures can be helpful for the discrimination of Parkinsonian syndromes. It has been suggested that ageing might influence brainstem MR measurements assessed by MR planimetry, while effects of gender and total intracranial volume (TIV) have not been assessed so far. The aim of this study was to evaluate age, gender and TIV effects on brainstem MR planimetric measures.

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Introduction: The hummingbird sign and the morning glory flower sign, reflecting midbrain pathology on MRI, have previously been shown to separate patients with progressive supranuclear palsy (PSP) from those with Parkinson's disease (PD) and multiple system atrophy (MSA). The aim of the present study was to determine the diagnostic accuracy and reproducibility of visual assessment of midbrain atrophy patterns in a large cohort of patients with neurodegenerative parkinsonism.

Methods: Retrospective analysis of midbrain atrophy patterns on T1-weighted MRI in a large cohort of patients with neurodegenerative parkinsonism and healthy controls who underwent MR imaging during their diagnostic work-up.

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Introduction: Several previous studies examined different brainstem-derived MR planimetric measures with regards to their diagnostic accuracy in separating patients with neurodegenerative parkinsonian disorders and reported conflicting results. The current study aimed to compare their performance in a well-characterized sample of patients with neurodegenerative parkinsonian disorders.

Methods: MR planimetric measurements were assessed in a large retrospective cohort of 55 progressive supranuclear palsy (PSP), 194 Parkinson's disease (PD) and 63 multiple system atrophy (MSA) patients.

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We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown.

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Convergent evidence suggests a pre-motor period in Parkinson's disease (PD) during which typical motor symptoms have not yet developed although dopaminergic neurons in the substantia nigra have started to degenerate. Advances in different neuroimaging techniques have allowed the detection of functional and structural changes in early PD. This review summarizes the state of the art knowledge concerning structural neuroimaging techniques including magnetic resonance imaging (MRI) and transcranial B-mode-Doppler-sonography (TCS) as well as functional neuroimaging techniques using radiotracer imaging (RTI) with different radioligands in detecting pre-motor PD.

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Using magnetic resonance (MR) planimetry, both the midbrain-to-pontine area ratio (m/p-ratio) and the MR parkinsonism index (MRPI) have been shown to assist in the differential diagnosis of progressive supranuclear palsy (PSP) from Parkinson's disease (PD) and the Parkinson variant of multiple system atrophy (MSA-P). The aim of this study was to determine the diagnostic accuracy of the MRPI compared with the m/p-ratio in a large cohort of 123 patients with neurodegenerative parkinsonism including patients with PSP, PD, and MSA-P. Patients with PSP had significant higher MRPI values and significant smaller m/p-ratios compared with the other groups with overlapping individual values.

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The differential diagnosis of parkinsonian syndromes is considered one of the most challenging in neurology, even for movement disorder specialists. Despite published consensus operational criteria for the diagnosis of Parkinson's disease (PD) and the various atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy, multiple system atrophy, and corticobasal syndrome, the clinical separation of APDs from PD carries a high rate of misdiagnosis. However, an early differentiation between APD and PD, each characterized by a largely different natural history, is crucial for determining the prognosis and choosing a treatment strategy.

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