Reflexive and voluntary saccadic eye movements as biomarker of Huntington's Disease.

INTRODUCTION: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD. MATERIAL AND METHODS: The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects. HD severity was measured using the Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) and Total Functional Capacity Scale (TFC). The evaluation of rapid eye movements (reflexive saccades, anti-saccades, memory-guided saccades) was carried out using 'Saccadometer Research'. RESULTS: Measures of reflexive and volitional saccades did not differ between the asymptomatic carriers and controls. Significant latency prolongation and increased physiological variability of latency times, as well as higher error rates among HD patients, were found in all saccade tasks (p < 0.001) compared to the controls. Abnormalities in saccade parameters were more pronounced in the advanced stages of the disease. Latency of saccades and error rate of volitional saccades correlated with the UHDRS-TMS and TFC scores. CONCLUSIONS: The saccade parameters in asymptomatic HD carriers with a long time to disease development were similar to those in the control group. Saccade abnormalities appeared in symptomatic patients at the beginning of the disease, and correlated with HD severity.

Kidney stones are common in patients with short-bowel syndrome receiving long-term parenteral nutrition: A predictive model for urolithiasis.

BACKGROUND: In short-bowel syndrome (SBS) treated with parenteral nutrition (PN), multiple complications can occur. The etiology of kidney stones may be linked to the underlying disease thrombosis, surgical complications, complications of therapy for cancer, Crohn's disease, metabolic abnormalities resulting from morphological and functional changes in the gastrointestinal tract, and to treatment used. We analyzed all these parameters in a large cohort of patients receiving home PN (HPN), to define the incidence of stones and groups of patients particularly at risk of stone formation. One of the objectiveswas to develop a predictive model of urolithiasis. METHODS: This observational retrospective study included 459 patients with SBS recieving HPN in a single center. Patient records were evaluated for demographics, SBS etiology, and underlying disease, anatomy of the gastrointestinal tract, intestinal failure classification, nutrition regimen, and presence of urolithiasis. RESULTS: Kidney stones were diagnosed in 24% of patients. Nodifferences in incidence were noted between the various etiologic groups. The incidence in patients with a colon in continuity and those with an end stoma was similar. The length of residual small bowel did not play a role in stone formation. There were no differences between patients according to the severity of intestinal failure. In patients treated with PN and limited oral feeding, the risk of urolithiasis was twice as high as in patients receiving PN only. CONCLUSIONS: Patients developed urolithiasis with no relation to the SBS etiology. The risk of kidney stone formation was higher in patients recieving PN with oral feeding.

The Utility of BDNF Detection in Assessing Severity of Huntington's Disease.

Brain-derived neurotrophic factor (BDNF) is involved in the survival and maturation of neurons, and also promotes and controls neurogenesis. Its levels are lowered in many neurodegenerative diseases, including Huntington's disease (HD). Clinical pictures of HD can be very diverse, which makes it difficult to assess its severity; however, molecular markers may be helpful. The aim of the study was to determine the relationship between HD severity and the plasma BDNF concentration in HD patients. The study recruited 42 patients with diagnosed and genetically confirmed HD and 40 healthy volunteers. BDNF levels were determined in plasma with the enzyme-linked immunosorbent assay (ELISA). Correlations between BDNF levels and clinical profiles and HD severity were also investigated. The BDNF level was significantly lower in HD patients compared to the control. There was no correlation between the BDNF level and motor symptoms and cognitive impairment. In the early disease stages, BDNF levels were associated with a better neurological examination, independence, and functional evaluation, in contrast to later HD stages, where the correlations were inverse. Multidirectional correlations between parameters of saccadic disorders and the BDNF level do not allow for drawing a conclusion, whether or not there is a relationship between the severity of saccadic disorders and the BDNF concentration.

Is TGF-ß1 a Biomarker of Huntington's Disease Progression?

Huntington's disease (HD) is an autosomal dominant genetic disease that can be divided into preclinical and symptomatic stages. Due to the diverse HD phenotype, there is an urgent need to identify markers that would independently assess its severity. The aim of this study was to evaluate the use of plasma levels of TGF-ß1 in the assessment of HD severity. One hundred HD patients and 40 healthy volunteers were included in the study. All HD patients underwent neurological and cognitive function assessment. TGF-ß1 levels were determined in the plasma of all patients. The correlations between TGF-ß1 levels and clinical profile and HD severity were also investigated. In symptomatic patients, cognitive decline was demonstrated, while in preclinical patients, no symptoms were found. Plasma levels of TGF-ß1 in HD patients did not differ significantly from the control group and did not change with the progression of the disease. In addition, TGF-ß1 levels also did not correlate with the severity of motor dysfunction. Positive correlations between plasma TGF-ß1 concentration and intensity of cognitive impairment were found, but only in the early disease stage. There was no clear benefit in assessing plasma TGF-ß1 levels in HD patients as a marker of disease severity.