Movement disorders associated with chromosomal aberrations diagnosed in adult patients.

INTRODUCTION: Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative chromosomal aberrations should be considered. AIM OF THE STUDY: The purpose of this article was to summarise clinical findings in six patients with dystonia and two with parkinsonism and identified chromosomal aberrations in a single-centre prospective study. MATERIALS AND METHODS: 15 adult patients with dystonia or parkinsonism were referred to array comparative genomic hybridisation (aCGH) testing from our Department of Neurology between 2014 and 2019. Additionally, one patient had a karyotype examination. Detailed clinical, psychological and radiological diagnostics were performed in each case. RESULTS: Chromosomal aberrations were identified in six patients with dystonia and two with parkinsonism. Two patients were identified with aberrations associated with de Grouchy syndrome. We also reported generalised dystonia in patients with deletion in 3q26.31 and duplication in 3p26.3, as well as dystonia and hypoacusis in a patient with duplication in Xq26.3. One patient was diagnosed with duplication in 21q21.1. Early-onset parkinsonism was a manifestation of deletion in the 2q24.1 region. Late onset parkinsonism was also present in the patient with the most severe aberrations (duplication 1q21.1q44; deletion 10p15.3p15.1; deletion 10q11.21). CONCLUSIONS: Dystonia and parkinsonism are possible manifestations of chromosomal aberrations. Chromosomal aberrations should be excluded in patients with early-onset movement disorders and concomitant dysmorphic features and/or intellectual disability. It is important to include this cause of movement disorders in future classifications. aCGH can be a valuable diagnostic tool in the evaluation of movement disorder aetiology.

Soluble Urokinase Plasminogen Activator Receptor Levels Correlation with Other Inflammatory Factors in Prognosis of Disability and Death in Patients with Ischemic Stroke.

Soluble urokinase plasminogen activator receptor (suPAR) is an inflammatory biomarker elevated in cardiovascular diseases. The aim of this 3-year follow-up prospective study was to evaluate suPAR levels in patients with a first ischemic stroke in correlation with CRP, PCT, NT-proCNP and endothelin 1-21 and to investigate the impact of suPAR on the outcome. Fifty-one patients (mean age 73.7+ = 11.9 years, 26 female and 25 male) were included. Samples were collected on the first (suPAR 1), third (suPAR 3) and seventh days after stroke onset (suPAR 7). Plasma samples were analyzed using ELISA. A phone interview was conducted to collect follow-up information after 24 and 36 months (modified Rankin Scale, mRS). A positive correlation between suPAR levels and other inflammatory biomarkers (except endothelin 3) was observed. A positive correlation between suPAR 3 and mRS score at 24 months was observed (p = 0.042). The logistic regression model revealed no significant effect of suPAR on death occurrence in the first 24 months: suPAR 1 (p = 0.8794), suPAR 3 (p = 0.2757), and suPAR 7 (p = 0.3652). The suPAR level is a potential inflammatory marker in ischemic stroke, and there is a correlation with other markers. There is no major impact on mortality. However, the suPAR level is associated with a degree of disability or dependence in daily activities 2 years after a stroke.

The Anatomy of the Circle of Willis Is Not a Strong Enough Predictive Factor for the Prognosis of Cross-Clamping Intolerance during Carotid Endarterectomy.

Carotid endarterectomy (CEA) is safe and effective in reducing the risk of stroke in symptomatic severe carotid artery stenosis. Having information about cross-clamping (CC) intolerance before surgery may reduce the complication rate. The purpose of this study was to assess the usefulness of magnetic resonance angiography (MRA) and magnetic resonance angiography perfusion (P-MR) in determining the risk of CC intolerance during CEA. MATERIAL AND METHODS: 40 patients after CEA with CC intolerance were included in Group I, and 15 with CC tolerance in Group II. All patients underwent MRA of the circle of Willis (CoW), P-MR with or without Acetazolamide; P(A)-MR in the postoperative period. RESULTS: CoW was normal in the MRA in three cases (7.5%) in Group I, and in eight (53%) in Group II. We found P-MR abnormalities in all patients from Group I and in 40% from Group II. Using a calculated cut-off point of 0.322, the patients were classified as CC tolerant with 100% sensitivity or as CC intolerant with 95% specificity. After evaluating P-MR or MRA alone, the percentage of false negative results significantly increased. CONCLUSION: The highest value in predicting cross-clamping intolerance is achieved by using analysis of P(A)-MR and MRA of the CoW in combination.

Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes.

Corticobasal Degeneration Degeneration (CBD) and Progressive Supranuclear Palsy (PSP) are types of four repeats (4R) tauopathies, which are associated to parkinsonian syndromes. The aim of the work is to analyze cases of patients of the Department of Neurology, overlapping of syndromes related to both pathologies and to show that most likely CBS and PSP are not lineary related to their commonly associated syndromes i.e. adequately corticobasal syndromes and progressive supranuclear palsy syndromes. In the context of each patient factors in favor of most likely CBS, PSP or both diseases are discussed and analyzed using contemporary criteria. This work discusses multidimensional aspect of the examination of five patient aged 64 to 83 - 4 females and 1 male with 4R tauopathies and difficulties in distinguishing both diseases. The duration of the disease varied from 1 to 5 years. Each patient after neurological examination was assessed using magnetic resonance imaging (MRI) and psychological test. Examination of all patients was extended using single photon emission computer tomography (SPECT) to reveal the usefulness of this tool in differentiation of diseases was done. The outcome of this examination was verified with prior clinical manifestation of patients and morphological abnormalities in magnetic resonance imaging. Autopsies were not conducted.