Transcranial Sonography Characteristics of Cerebellar Neurodegenerative Ataxias.

Cerebellar neurodegenerative ataxias are a group of disorders affecting the cerebellum and its pathways with different neurological structures. Transcranial sonography (TCS) has been used for the evaluation of brain parenchymal structures in various diseases because of its fast and safe utilization, especially in neuropsychiatric and neurodegenerative diseases. The aim of our study was to investigate TCS characteristics of patients with neurodegenerative cerebellar ataxias. In our study, we included 74 patients with cerebellar degenerative ataxia; 36.5% had autosomal dominant onset, while 33.8% had sporadic onset. Standardized ultrasonographic planes were used for the identification of brain structures of interest. The SARA, INAS, neuropsychological and psychiatric scales were used for the further clinical evaluation of our study participants. The brainstem raphe was discontinued in 33.8% of the patients. The substantia nigra (SN) hyperechogenicity was identified in 79.7%. The third and fourth ventricle enlargement had 79.7% and 45.9% of patients, respectively. A positive and statistically significant correlation was found between SN hyperechogenicity with dystonia (p < 0.01), rigidity and dyskinesia (p < 0.05). The higher SARA total score is statistically significantly correlated with the larger diameter of the III (r = 0.373; p = 0.001) and IV ventricles (r = 0.324; p = 0.005). In such patients, the echogenicity of substantia nigra has been linked to extrapyramidal signs, and raphe discontinuity to depression. Furthermore, ataxia and its clinical subtypes have positively correlated with the IV ventricle diameter, indicating brain atrophy and brain mass reduction.

Cerebral venous thrombosis: a retrospective unicentric analysis of clinical and neuroimaging characteristics.

Thrombosis of dural sinuses and/or cerebral veins (CVT) is an uncommon form of stroke, usually affecting young individuals. It has a variable clinical presentation ranging from mild cases presenting only headaches, to severe cases featuring encephalopathy, coma or status epilepticus. A retrospective cross-sectional study of patients treated in the outpatient department and in-hospital during the period from 2014 to 2020 at the Neurology Clinic-University Clinical Centre of Serbia was conducted. Forty-nine patients (24 men; 25 women) were included in the study. Twenty-three patients (46.9%) suffered a subacute form of CVT (48 h-4 weeks), 19 (38.8%) presented with an acute form (< 48 h) and 7 (14.3%) with a chronic form (> 4 weeks). Around 75% of patients reported headaches during disease course. Focal neurological deficit (FND) was observed in 27 (55.1%) patients. Patients who did not report headaches (22.4%) presented with more severe symptoms (seizures and coma). More than 70% of patients had no radiologically evident brain parenchymal lesion. The most frequent locations of CVT were transverse sinus (79.6%), sigmoid sinus (44.9%) and superior sagittal sinus (36.7%). Thrombosis of more than one sinus/vein occurred in 33 (67.3%) patients. Hereditary thrombophilia was observed in 9 (18.4%) patients, 11 (22.4%) patients had some type of infection and 20% of women reported OCT usage. As much as 25% of cases remained without evident risk factors. The most common symptom in our cohort was acute unilateral throbbing headache of high intensity, while patients without headaches had more severe symptoms.

Body composition analysis in patients with myotonic dystrophy types 1 and 2.

INTRODUCTION: To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with socio-demographic and clinical features of the diseases. METHODS: There were no statistical differences in sociodemographic features between 20 DM1 patients and 12 DM2 patients. Body composition was assessed by DEXA (dual-energy x-ray absorptiometry). A three-compartment model was used: bone mineral content (BMC), fat mass (FM), and lean tissue mass (LTM). RESULTS: Patients with DM1 and DM2 had similar total body mass (TBM), BMC, FM, and LTM. Patients with DM1 had higher trunk-limb fat index (TLFI) in comparison to DM2 patients which indicates visceral fat deposition in DM1 (1.16 ± 0.32 for DM1 vs. 0.87 ± 0.23 for DM2, p < 0.05). Right ribs bone mineral density was lower in DM2 group (0.68 ± 0.07 g/cm2 vs. 0.61 ± 0.09 g/cm2, p < 0.05). Higher percentage of FM in legs showed correlation with lower strength of the upper leg muscles in DM1 (ρ = - 0.47, p < 0.05). Higher muscle strength in DM2 patients was in correlation with higher bone mineral density (ρ = + 0.62, p < 0.05 for upper arm muscles, ρ = + 0.87, p < 0.01 for lower arm muscles, ρ = + 0.72, p < 0.05 for lower leg muscles). CONCLUSION: DM1 patients had visceral obesity, and percentage of FM correlated with a degree of muscle weakness in upper legs. In DM2 patients, degree of muscle weakness was in correlation with higher FM index and lower bone mineral density.