The theme of the annual meeting of the European Society of Neurology was ” Neurology beyond Big Data”. Digitalization has long since found its way into medicine. Ever larger volumes of data need to be processed. They range from routinely collected clinical and population health data to genomics and other omics to clinical diagnostics. Concepts, current progress, opportunities and challenges against the background of digitization were therefore discussed.
Abnormalities Can amyloid deposition on the skin and nerve fiber loss be used as markers for the onset and progression of neuropathy in hereditary transthyretin amyloidosis? This question was addressed in a retrospective study [1]. Congo red skin staining and intraepidermal nerve fiber density (IENFD) were analyzed in symptomatic hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) patients and asymptomatic TTR gene mutation carriers. Non-ATTRv patients with suspected small fiber neuropathy who underwent skin biopsy during the same period served as controls. One hundred eighty-three symptomatic ATTRv-PN patients, 36 asymptomatic carriers, and 537 non-ATTRv patients were included. Skin biopsy showed amyloid deposits in 80% of 183 symptomatic cases. Skin amyloid deposits were observed in 75% of early-stage ATTRv patients and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients showed decreased IENFD at the ankle with a proximal-distal gradient, and decreased IEFND correlated with disease severity and duration. Accordingly, it was confirmed that skin amyloid deposition is a marker of ATTRv-PN disease onset and decreased IENFD is a marker of disease progression.
Autonomic dysfunctions in view
Autonomic dysfunction (AD) is common in patients with Guillain-Barré syndrome (GBS) or diabetic patients [2]. Cardiovascular AD in particular contributes to poor prognosis and increased risk of death. Especially in GBS, AD is common in affected individuals who require mechanical ventilation. However, there is no clear link between AD and muscle weakness. AD are life-threatening because of unpredictable switches between sympathetic and parasympathetic hypo- and hyperactivity that trigger tachyarrhythmias and bradyarrhythmias, arterial hypertension, and hypotension. Baroreflex dysfunction can lead to persistent arterial hypertension and hypotension, rapid fluctuations in blood pressure, and orthostatic hypotension (OH). Bladder and gastrointestinal disorders can lead to urinary retention, diarrhea, constipation, or paralytic ileus. GBS patients should therefore be routinely tested for autonomic function and may require a pacemaker. Cardiovascular drugs with long half-lives should be avoided. In diabetes, all organs can be affected by autonomic dysfunction, causing a myriad of symptoms. Erectile dysfunction is common and a predictor of cardiovascular AD, which is associated with a high mortality rate. Of note, rapid hyperglycemia often causes iatrogenic painful small fiber neuropathy and marked autonomic dysfunction. Early treatment with blood glucose control and lifestyle modification is essential to halt or slow the progression of the disease.
Brain fog impairs brain performance
Brain fog was observed more frequently, especially during the pandemic. It is associated with objectively poorer cognitive performance and higher levels of anxiety, depression, and migraine. Researchers now addressed the systematic associations between 29 variables and the presence of brain neurons using univariate and machine learning methods [3]. Clinical comorbidities, lifestyle factors, symptoms, functional deficits, and cognitive scores were among the factors examined. For this purpose, data were collected from 25 796 users of a validated smartphone application. Of the participants, 28.2% reported suffering from brain fog. As a concomitant condition, those affected reported poorer sleep quality. However, it was also found that patients used the term brain fog in different ways. The majority of scientists so far believe that the condition occurs in episodes and can affect all segments of the population, including young people. This is in contrast to neurodegenerative dementia, which is much more common with age. The researchers’ conclusion based on the data analyzed is that brain fog is best defined as a difficulty that can affect activities of daily living, such as doing paperwork, planning ahead, and mental arithmetic. In addition, the researchers found a strong association between brain fog and migraine, history of concussion, and a long COVID-19 course.
MS in the light of new findings
In recent years, the recognition that there is a continuous and insidious progression of clinical disability in patients with multiple sclerosis (MS) independent of acute overt neurologic episodes and the formation of active lesions on MRI has significantly changed the management of these patients. There is a need to identify new metrics that capture this silent activity and can be used not only in clinical trials but also in everyday clinical practice. This is essential not only to get closer to the pathophysiological processes of MS, but also to determine the response to the many disease-modifying treatments available. Because of its specificity for the heterogeneous pathologic substrates of disease and its repeatability, MRI is an appropriate tool for identifying and monitoring these processes. An investigation was therefore undertaken to determine whether the thickness of the peripapillary retinal nerve fiber layer (pRNFL) and the macular ganglion cell and inner plexiform layer (GCIPL) – measured by optical coherence tomography (OCT) – could be a predictor of disability accumulation in the context of the first clinical manifestation of relapsing-remitting multiple sclerosis (RMS). For this purpose, 231 newly diagnosed RMS patients were included in a prospective observational study [4]. It was found that an EDSS ≥3 could be predicted by GCIPL <77 μm and pRNFL thickness ≤88 μm. Accordingly, retinal thickness may be considered a useful predictor of future disability in RMS independent of established markers. Older age, incomplete remission of the first clinical seizure, ≥10 MRI lesions, and infratentorial MRI lesions were associated with an increased risk of disability accumulation, whereas high-potency DMT was protective. The type of first clinical seizure and the presence of oligoclonal bands were not significantly associated.
High frequency training for Parkinson’s disease
Cognitive decline is one of the most common complications in patients with Parkinson’s disease (PD), as it significantly reduces quality of life. A breakthrough in the prevention of cognitive decline is not yet in sight. Therefore, the aim of a study was to evaluate the effectiveness of high-frequency multimodal training in improving motor and cognitive function [5]. 28 PD patients completed a comprehensive neuropsychological test battery and underwent neurological examination. Patients in the intervention group participated in two weekly sessions of tai chi therapy over four weeks and also completed an individually tailored training program consisting of two modules: smartphone-based language and cognitive training. A matched control group consisted of 13 PD patients who received computerized cognitive training.
Four weeks of high-frequency training showed significant effects within the intervention group on verbal episodic memory and visuospatial function. The significant improvement was also shown in the Tinetti mobility test. The significant effects were maintained after six months of follow-up. The results demonstrate that a multimodal training program can not only improve gait and stability, but also help improve cognition.
Congress: 9th Congress of the European Academy of Neurology (EAN)
Literature:
- Leonardi L, et al: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis. PLEN04_6. EAN 04.07.2023.
- Hilz M, et al: Life threatening, though different autonomic dysfunction in diabetes and Guillan-Barrè syndrome (GBS). FW06_2. EAN 2023.
- Mahmud M, et al: The Correlates of Subjective Brain Fog in 25796 UK Participants. EAN 2023
- Bsteh G, et al: Retinal layer thickness predicts disability accumulation in early relapsing multiple sclerosis. EAN 2023.
- Toloraia K, et al: High frequency multimodal training for improving motor and cognitive function in people with Parkinson’s disease. EPO-068. EAN 2023.
InFo NEUROLOGY & PSYCHIATRY 2023; 21(4): 16-17 (published 8/22-23, ahead of print).
