Publications by authors named "W P Cheshire"
Article Synopsis
- The study aimed to assess the positive predictive value (PPV) of clinical diagnoses of multiple system atrophy (MSA) over two time periods, comparing data from 2008-2017 to 2018-2022, hypothesizing that advancements in diagnostic tools such as brain MRI would improve accuracy.
- Among 321 patients diagnosed with MSA, the overall PPV increased from 63% to 78% between the two evaluated periods, with brain MRI usage rising significantly, indicating a strong correlation between MRI use and higher PPV for MSA cases.
- The results also showed that while the PPV for the cerebellar type of MSA remained stable, the PP
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).
Article Synopsis
- Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
- A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
- The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
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.