Journal of the Neurological Sciences issue 459 now available

Taste and smell function in Wilson's disease

Published online: March 5, 2024

Wilson's disease (WD) is a metabolic disorder associated with abnormal copper metabolism that results in hepatic, psychiatric, and neurologic symptoms. No investigation of taste function has been made in patients with WD, although olfactory dysfunction has been evaluated.

Quantitative taste and smell test scores of 29 WD patients were compared to those of 790 healthy controls. Taste was measured using the 53-item Waterless Empirical Taste Test (WETT®) and smell using the 40-item revised University of Pennsylvania Smell Identification Test (R-UPSIT®). Multiple linear regression analysis controlled for age and sex.

Although WD negatively impacts smell function, taste is spared. Research is needed to understand the pathophysiologic mechanisms responsible for this divergence.

HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP): Case based discussion of risk factors, clinical, and therapeutic considerations

Published online: March 19, 2024

HTLV-1 is a retrovirus virus that infects CD4+ T cells. Most people with HTLV-1 infection remain asymptomatic but some may develop conditions such as HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or adult T-cell leukemia/lymphoma. HAM/TSP is characterized by progressive spasticity and weakness of the lower extremities, as well as loss of bladder control and sensory disturbances.

The risk of developing HAM/TSP is associated with the duration of infection and the proviral load. There is currently no cure for the disease but medications can help manage symptoms and slow the progression of the disease. This is the case of a 66-year-old female who presented with nonspecific symptoms of weakness and spasticity in a hospital in Connecticut and was subsequently diagnosed with HAM/TSP. The patient's diagnosis highlights the importance of considering diseases previously confined to specific endemic regions in a globalized world where increased emigration and population mixing can occur. Early identification and management of such cases is essential for optimizing patient outcomes and quality of life.

Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease

Published online: March 30, 2024

Huntington's disease (HD) is a hereditary neurodegenerative disease, currently lacking disease-modifying treatments. Biomarkers are needed for objective assessment of disease progression. Evidence supports both complex protein aggregation and astrocyte activation in HD.

This study assesses the 42 amino acid long amyloid beta (Aβ42) and glial fibrillary acidic protein (GFAP) as potential biomarkers in the cerebrospinal fluid (CSF) of HD mutation carriers.

We provide evidence that indicates CSF Aβ42 has limited potential as a biomarker for HD. GFAP is a potential biomarker of progression in HD. Validation in larger cohorts measuring GFAP in blood and CSF would be of interest.

Remote pulmonary function testing allows for early identification of need for non-invasive ventilation in a subset of persons with ALS

Published online: March 18, 2024

The traditional ALS multidisciplinary clinical practice of quarterly respiratory assessment may leave some individuals in danger of developing untreated respiratory insufficiency between visits or beginning non-invasive ventilation (NIV) later than would be optimal. Remote, or home-based, pulmonary function testing (rPFT) allows patients with ALS to perform regular respiratory testing at more frequent intervals in the home.

The aim of this study was to determine the clinical benefit of weekly rPFT compared to standard, quarterly in-clinic respiratory assessments: the number of individuals with earlier identification of NIV need, the magnitude of this advance notice, and the individual factors predicting benefit. Participants with ALS (n = 39) completed rPFT training via telemedicine and then completed one year of weekly self-guided assessments in the home. Over this period, 17 individuals exhibited remotely-measured FVC dropping below 50% of predicted, the value often used for recommendation of NIV initiation.

In 13 individuals with clinical detection of this event, the median and range of advance notice of need for NIV was 53 (−61–294) days. Prescription of NIV occurred for 21 individuals on the study, six of whom began NIV as a result of remote testing, prior to indication of need as determined by in-person assessments. Weekly home assessments appeared to be of greatest clinical value in a subset of patients with low baseline respiratory test values and rapid respiratory decline. This has potential implications for clinical management of ALS as well as the conduct of clinical trials that rely on respiratory endpoints.