(18F)-FDG pet imaging and Neuro-ophthalmological findings in diagnosis of progressive Supranuclear palsy: Case report

Introduction: Progressive supranuclear palsy is a neurodegenerative disorder, described as a tauopathy. The neuroimaging and visual symptoms are among the most important in the diagnosis of this disease. The ophthalmoparesis mainly concerns voluntary eye movements. Patients mostly present with vertical palsy, involuntary eye movements, convergence insufficiency, and diplopia.Case report: A 62-year-old female patient was admitted to the hospital because of the gait disturbance and frequent falls. She had impaired memory, handwriting and speech for one year. On neurological and neuro-ophthalmological examinations, the patient presented with vertical gaze palsy, involuntary eye movements, dysarthria, tremor in the right hand, and cerebellar ataxia. Blood tests were normal. (18F)-FDG PET revealed bilateral zones of moderate hipometabolism in the regions of posterior frontal cortex, anterior cingulum, left thalamus, head of left striatum, and left temporal lobe. Neuropsychological tests revealed cognitive impairment (MMSE-26; IADL-1).Conclusion: Based on the literature review and our own notices, we suggest that (18F)-FDG PET scanning and neuro-ophthalmological examination in addition to structural neuroimaging and clinical findings play a crucial role in the differential diagnosis of PSP and other parkinsonian syndromes

Diabetes mellitus in Parkinson`s disease patients

PURPOSE: Parkinson's disease (PD) is the second most common neurodegenerative disease affecting approximately 5 million people worldwide. Some studies have found out an association between PD and type 2 diabetes mellitus (DMT2). Their results suggest a common pathophysiologic pathway. Other authors fail to establish any link between these two diseases. The aim of the present study is to search for a potential association between DMT2 and PD.MATERIAL AND METHODS: We  investigated the medical records of 85 patients, 45 males and 40 females, aged 68.02±9.02 (range, 40-87) years and with disease duration of 4.98±..96 (range, 1-18) years. They were diagnosed as PD according to the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria and hospitalized for a two-year period.RESULTS: We established a prevalence of DMT2 in PD patients of 18.8%. We discussed the potential relationships between these two disorders of great medical, social and economic impact. Insulin levels contribute to normal brain function.CONCLUSION: The history of DMT2 or the use of antidiabetic drugs might be a risk factor for PD.Scripta Scientifica Medica 2013; 45(1): 79-81.</p

Serum cholesterol and triglycerides in Parkinson`s disease and essential tremor

The role of lipid metabolism in the pathogenesis of Parkinson`s disease is still controversial. Most authors suggest that higher The role of lipid metabolism in the pathogenesis of Parkinson`s disease is still controversial. Most authors suggest that higher serum cholesterol may be associated with a lower risk of Parkinson`s disease. Debates exist as to whether essential tremor shares similar neuropathological mechanisms as Parkinson`s disease. We investigated serum total cholesterol and triglyceride levels in a clinical setting of Parkinson`s disease versus essential tremor patients. Two hundred and sixteen Parkinson`s disease patients (126 males), aged 68.04 years, with 4.58 years disease duration and 342 essential tremor patients (118 males), aged 69.39 years, with 5.3 years disease duration were included, hospitalized during a period of 7 years in First Clinic of Neurology, University St Marina Hospital, Varna, Bulgaria. We found insignificantly higher levels of serum total cholesterol and triglyceride in essential tremor patients. Results differ statistically only on gender level with increased cholesterol in males and triglycerides in females. Our findings may indicate divergent pathophysiological mechanisms underlying Parkinson`s disease and essential tremor. Further research may elucidate the role of lipid metabolism changes in both diseases.Biomed Rev 2015; 26: 43-46.Key words: serum total cholesterol, triglycerides, Parkinson`s disease, essential tremo

Application of the Rey-Osterrieth complex figure test for assessment of cognitive impairment in multiple sclerosis

INTRODUCTION: Cognitive impairment is frequent in multiple sclerosis and predominantly affects visuospatial abilities, memory, attention, and executive functions. Because of the specific cognitive profile, different from that in Alzheimer's disease and other frequent disorders presenting with dementia, specific neuropsychological instruments need to be used in multiple sclerosis. The aim of the present study is to assess the applicability of the Rey-Osterrieth complex figure test (ROCFT) for assessing cognitive impairment in patients with multiple sclerosis in comparison with a control group.MATERIAL AND METHODS: One hundred and two persons, 70 patients with MS and 32 healthy control subjects were assessed using ROCFT. A standardized system for assessment by points and percentiles was used. The results of both groups were compared statistically using independent samples t-test.RESULTS: On the copying task, the differences between patients and controls reached statistical significance, p<0.05 for the raw score, and p<0.001 after results were grouped by percentiles. On the drawing by memory task the differences between the two groups also showed statistical significance, p<0.01.CONCLUSION: ROCFT shows statistically significant differences between patients with multiple sclerosis and healthy subjects. Highest levels of significance were observed for copying, scored by percentiles, and for drawing by memory. The application of ROCFT can provide valuable information about cognitive dysfunction in multiple sclerosis

Comorbidity of Structural Epilepsy and Multiple Sclerosis: MRI, 18FFDG PET/CT and EEG Investigations

There is accumulating evidence of a mutual relationship between multiple sclerosis and structural epilepsy. Comorbidity of these severe neurological disorders is reported in numerous recent publications in the available foreign literature. Modern diagnostic tools include comprehensive neurological examinations as well as computed tomography, electroencephalography and 18FFDG positron emission tomography. In this paper we report the case of a female patient with multiple sclerosis and structural epilepsy

Epidemiological Study of Neuromuscular Diseases in the Varna Region // Епидемиологично проучване на невромускулните заболявания във Варненския регион

Hereditary neurological diseases represent a broad heterogeneous group of rare and difficult to recognize diseases that cause severe disability and have a poor prognosis. Literature review indicates the lack of accurate epidemiological data in our country and a tendency for late diagnosis and insufficiently effective treatment of patients with these diseases. Hereof, the study of their frequency and distribution causes considerable scientific and theoretical interest. Their early molecular genetics and clinical diagnosis provide greater opportunities for prenatal prevention and effective treatment. Moreover, the application of field studies as a screening method for the early detection of patients with hereditary neurological diseases plays an important role in actual clinical practice. In addition, the establishment of patient registries is of essential practical importance. Therefore, conducting an in-depth clinical-epidemiological and molecular genetic study of patients with various neuromuscular, metabolic, and hereditary diseases of the CNS in the region of Varna acquires increasingly important health, social and economic importance. The purpose of the research is to study the molecular genetics and clinical-epidemiological characteristics of a group of patients with neuromuscular, metabolic, and hereditary CNS diseases in the region of Varna. A total of 120 patients (74 men and 46 women) from the Varna region were included in the study.Наследствените неврологични заболявания представляват широка хетерогенна група от редки и трудно разпознаваеми болести, които причиняват тежка инвалидизация и имат лоша прогноза. Литературният обзор посочва липсата на точни епидемиологични данни в нашата страна, както и тенденция за късна диагностика и недостатъчно ефективно лечение на болните с тези заболявания. В тази връзка, изследването на тяхната честота и разпространение предизвиква значителен научно-теоретичен интерес. Ранната им молекулярно-генетична и клинична диагностика предоставя по-голяма възможност за пренатална профилактика и ефективно лечение. Също така, приложението на теренните проучвания като скринингов метод за ранно откриване на болни с наследствени неврологични заболявания играе важна роля в действителната клинична практика. В допълнение, създаването на регистри на болните е от съществено практическо значение. Ето защо, провеждането на задълбочено клинико-епидемиологично и молекулярно-генетично проучване на болните с различни невромускулни, метаболитни и наследствени заболявания на ЦНС във Варненския регион придобива все по-важно здравно, социално и икономическо значение. Целта на изследването е да се проучат молекулярно-генетичните и клинико-епидемиологични характеристики на група от болни с невромускулни, метаболитни и наследствени заболявания на ЦНС във Варненски регион. В проучването са включени общо 120 пациенти (74 мъже и 46 жени) от Варненска област

BRAIN AND LESION VOLUMES CORRELATE WITH EDSS IN RELAPSING-REMITTING MULTIPLE SCLEROSIS.

Background: Demyelination and neurodegeneration are hallmarks of multiple sclerosis (MS). Axonal damage is considered to be the leading factor for persisting disability in the course of the disease. In different studies, expanded disability status scale (EDSS) scores have been found to correlate with brain atrophy, lesion load, or both. Objective: To assess the possible correlations between EDSS scores and volumes of brain, grey and white matter, and subcortical structures in patients with relapsing-remitting multiple sclerosis. Subjects and Methods: 46 patients with RRMS were included in the study. Total brain volume, grey and white matter volumes were calculated using SIENAX, and subcortical structure volumes were obtained using FIRST, parts of FSL. EDSS was scored by a qualified rater. Statistical analysis was performed. Results: Moderate negative correlation of EDSS was demonstrated with total brain volume, grey and white matter volume, volumes of left and right pallidum, putamen, caudate nucleus, n. accumbens (p<0.01), and with the volumes of left and right thalamus (p<0.05). Moderate positive correlation was found between EDSS and T2 lesion volume (p<0.01). Correlation between EDSS and hippocampal volumes was weak. Conclusions: Our results demonstrate that in patients with relapsing-remitting multiple sclerosis, higher disability correlates with lower volumes of brain, grey and white matter, and some subcortical structures, but also with higher T2 lesion load. We support the hypothesis about a possible causal relationship between white matter damage and brain atrophy, as well as the role of both demyelination and neurodegeneration for disability in MS

USE OF STRUCTURAL MRI IN PATIENTS WITH MEDICALLY REFRACTORY SEIZURES

Introduction: Refractory epilepsy is common in patients with structural brain lesions including acquired disorders and genetic abnormalities. Recently, MRI is a precise diagnostic tool for recognition of different structural causes underlying medically intractable seizures.Objective: To evaluate the usefulness of MRI for detection of brain lesions associated with refractory epilepsy.Material and methods: 49 patients (20M and 29F; aged 48.6±24.7 years) with refractory epilepsy were included in the study. They presented with partial (46.0%), secondary (31.0%) or primary (23.0%) generalized tonic-clonic seizures. Clinical diagnosis was based on the revised criteria of ILAE. Structural neuroimaging (MRI), EEG recording, and neurological examination were performed.Results: MRI detected different structural brain abnormalities totally in 36 (73.5%) patients, including cerebral tumors (21p), cerebrovascular accidents (5p), hyppocampal sclerosis (3p), developmental malformations (2p), postencephalitic lesions (2p), arachnoid cysts (2p), and tuberous sclerosis (1p). Neuroimaging revealed normal findings in 13 (27.5%) cases. EEG recordings showed focal epileptic activity in 38 (77.6%) patients, including 33 cases with and 5 without structural brain abnormalities.Conclusion: This study revealed that structural brain lesions are commonly associated with refractory epilepsy. We suggested that MRI is a useful diagnostic method for assessment of patients with uncontrolled seizures or altered epileptic pattern

INFLUENCE OF WHITE MATTER LESION FILLING ON VOLUMETRIC ASSESSMENT IN MULTIPLE SCLEROSIS

Background: The continuous progress of information technology has made possible the creation of tools for post processing of magnetic resonance and other imaging modalities, including software programmes aimed at volumetric studies of the brain. They have the potential to enrich visual data with precise numeric values but have to be used with caution because of their possible susceptibility to errors if scans with specific pathology are fed in. Objective: The purpose of the present study is to assess whether filling white matter lesions on magnetic resonance scans of multiple sclerosis patients would influence volumetric values. Methods: MS lesions were filled on T1 3D images of 49 patients by the lesion-filling algorithm of FSL, using previously created lesion masks. Volumes of brain grey and white matter, peripheral grey matter and ventricle CSF were calculated using SIENAX for the filled and non-filled series, which were then compared. Results: There were statistically significant differences for white matter volume before and after lesion filling (p<0.05). No other volumes were significantly different. Conclusion: Filling of white matter lesions may be time-consuming, but can improve the accuracy of SIENAX by reducing bias due to misidentification of tissue intensity. Sometimes though, improvement of specific values may not reach statistical significance

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from North West India. The clinical features in the Bulgarian ONE group can be described with disease onset mostly in the third decade, but in individual cases, onset was as early as 10 years of age. The majority of patients had foot drop as the first symptom, but three patients developed hand weakness first. Muscle weakness was early and severe for the tibialis anterior, and minimal or late for quadriceps femoris, and respiratory muscles were only subclinically affected even in the advanced stages of the disease. During a 15-year follow-up period, 32 patients became non-ambulant. The average period between disease onset and loss of ambulation was 10.34 +/- 4.31 years, ranging from 3 to 20 years. Our analysis of affected sib pairs suggested a possible role of genetic modifying factors, accounting for significant variation in disease severity. (C) 2015 Elsevier B.V. All rights reserved