Occupational histories in neuropathologically confirmed multiple system atrophy.

Purpose: This study examined occupational histories in multiple system atrophy to identify environmental associations of potential relevance to disease causation.

Methods: A total of 270 neuropathologically confirmed cases of multiple system atrophy obtained from the Mayo Clinic Brain Bank for neurodegenerative disorders in Jacksonville, Florida, were included in this case-control study. Demographic and disease information was collected from medical records.

Autonomic impairment in primary lateral sclerosis.

Purpose: Prior studies reported evidence of autonomic involvement in motor neuron disease and suggested more severe dysfunction in upper motor neuron predominant syndromes. Hence, we sought to characterize autonomic impairment in primary lateral sclerosis.

Methods: Neurological evaluations, thermoregulatory sweat tests, and autonomic reflex screens were analyzed retrospectively in 34 primary lateral sclerosis patients (28 definite and 6 probable).

Frequency of Comorbid Pathologies and Their Clinical Impact in Multiple System Atrophy.

Background: Mixed pathology is common at autopsy for a number of age-associated neurodegenerative disorders; however, the frequency of comorbid pathologies in multiple system atrophy (MSA) and their clinical correlations are poorly understood.

Objective: We determined the frequency of comorbid pathologic processes in autopsy-confirmed MSA and assessed their clinical correlates.

Methods: This study included 160 neuropathologically established MSA from the Mayo Clinic brain bank.

Diagnosing multiple system atrophy: current clinical guidance and emerging molecular biomarkers.

Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder characterized by motor and autonomic dysfunction. Accurate and early diagnosis of MSA is challenging due to its clinical similarity with other neurodegenerative disorders, such as Parkinson's disease and atypical parkinsonian disorders. Currently, MSA diagnosis is based on clinical criteria drawing from the patient's symptoms, lack of response to levodopa therapy, neuroimaging studies, and exclusion of other diseases.

Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank.

Background And Objective: The second consensus criteria in 2008 have been used in diagnosing multiple system atrophy (MSA). The International Parkinson and Movement Disorder Society (MDS) proposed new diagnostic criteria for MSA in 2022. This study aimed to compare the diagnostic accuracy between these 2 criteria and validate the clinical utility of the newly proposed criteria for MSA.

Cancer in pathologically confirmed multiple system atrophy.

Purpose: The aim of this study was to assess whether cancer occurs with increased frequency in multiple system atrophy (MSA). The pathological hallmark of MSA is glial cytoplasmic inclusions containing aggregated α-synuclein, and the related protein γ-synuclein correlates with invasive cancer. We investigated whether these two disorders are associated clinically.

Current advances in the surgical treatment of glossopharyngeal neuralgia.

Glossopharyngeal neuralgia (GPN) is a neurological condition characterized by paroxysmal, stabbing-like pain along the distribution of the glossopharyngeal nerve that lasts from a couple of seconds to minutes. Pharmacological treatment with anticonvulsants is the first line of treatment; however, about 25% of patients remain symptomatic and require surgical intervention, which is usually done via microvascular decompression (MVD) with or without rhizotomy. More recently, the use of stereotactic radiosurgery (SRS) has been utilized as an alternative treatment method to relieve patient symptoms by causing nerve ablation.

Motor Cortex Stimulation for Pain: A Narrative Review of Indications, Techniques, and Outcomes.

Background: Motor cortex stimulation (MCS) was introduced in 1985 and has been tested extensively for different types of peripheral and central neuropathic pain syndromes (eg, central poststroke pain, phantom limb pain, trigeminal neuropathic pain, migraines, etc). The motor cortex can be stimulated through different routes, including subdural, epidural, and transcranial.

Objectives: In this review, we discuss the current uses, surgical techniques, localization techniques, stimulation parameters, and clinical outcomes of patients who underwent chronic MCS for treatment-resistant pain syndromes.

Oral and intravenous hydration in the treatment of orthostatic hypotension and postural tachycardia syndrome.

Hydration with water and salt is the mainstay of treatment for autonomic nervous system disorders that impair orthostatic tolerance. The goal is to expand intravascular volume to compensate for the downward displacement of blood volume that occurs when standing and thereby sustain cerebral perfusion and restore quality of life. Despite strong consensus recommendations for salt supplementation as standard treatment of these disorders, published evidence of benefit is relatively weak, and no randomized clinical trials have occurred.

Diagnostic criteria for initial orthostatic hypotension: a narrative review.

Abnormalities in orthostatic blood pressure changes upon active standing are associated with morbidity, mortality, and reduced quality of life. However, over the last decade, several population-based cohort studies have reported a remarkably high prevalence (between 25 and 70%) of initial orthostatic hypotension (IOH) among elderly individuals. This has raised the question as to whether the orthostatic blood pressure patterns in these community-dwelling elderly should truly be considered as pathological.

Salt: The paradoxical philosopher's stone of autonomic medicine.

Sodium chloride, or common table salt, for millennia has played a prominent role in human affairs. Salt is also a key molecule for regulating intravascular fluid volume in patients with orthostatic disorders. In this first article of a special issue of the journal focusing on salt and the autonomic nervous system, the historical and physiologic significance of salt is reviewed, highlighting its importance to society and to medicine.

Religion in the US during the time of a Pandemic: A Medical Perspective.

Approximately 80% of Americans identify as religious. As physicians caring for patients with COVID-19, we have seen both positive and negative effects of religious activity during the pandemic. Religious worship generally supports close social interaction, which provides many benefits, especially in mental health, but it can also contradict infection control measures.

Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank.

Background: Multiple system atrophy (MSA) presents with various combinations of autonomic dysfunction, parkinsonism, and cerebellar ataxia. Although clinical diagnostic criteria have been widely used, the sensitivity and specificity are suboptimal. This study aims to provide evidence supporting the revision of the current diagnostic criteria for MSA.

Absence of Meckel Cave: A Rare Cause of Trigeminal Neuralgia.

Trigeminal neuralgia is a debilitating condition with numerous etiologies. In this retrospective case series, we report a cohort of patients with a rarely described entity, absence of Meckel cave, and propose this as a rare cause of trigeminal neuralgia. A search of the electronic medical record was performed between 2000 and 2020 to identify MR imaging reports with terms including "Meckel's cave" and "hypoplasia," "atresia," "collapse," or "asymmetry.

Autonomic dysfunction following COVID-19 infection: an early experience.

Purpose: Post-COVID-19 syndrome is a poorly understood aspect of the current pandemic, with clinical features that overlap with symptoms of autonomic/small fiber dysfunction. An early systematic analysis of autonomic dysfunction following COVID-19 is lacking and may provide initial insights into the spectrum of this condition.

Methods: We conducted a retrospective review of all patients with confirmed history of COVID-19 infection referred for autonomic testing for symptoms concerning for para-/postinfectious autonomic dysfunction at Mayo Clinic Rochester or Jacksonville between March 2020 and January 2021.

Investigating ELOVL7 coding variants in multiple system atrophy.

Multiple system atrophy (MSA) is a rare sporadic, progressive parkinsonism characterised by autonomic dysfunction. A recent genome-wide association study reported an association at the Elongation of Very Long Fatty Acids Protein 7 (ELOVL7) locus with MSA risk. In the current study four independent and unrelated cohorts were assessed, consisting of pathologically confirmed MSA cases, Parkinson's disease (PD) cases, and two unrelated, healthy control groups.

Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

Purpose: Investigate single nucleotide variants and short tandem repeats in 39 genes related to spinocerebellar ataxia in clinical and pathologically defined cohorts of multiple system atrophy.

Methods: Exome sequencing was conducted in 28 clinical multiple system atrophy patients to identify single nucleotide variants in spinocerebellar ataxia-related genes. Novel variants were validated in two independent disease cohorts: 86 clinically diagnosed multiple system atrophy patients and 166 pathological multiple system atrophy cases.