Browsing by Author "Dragašević Mišković, Nataša (59157743200)"

Introduction: Functional movement disorders (FMD) refer to a group of movement disorders that present with clinical characteristics incongruent to those due to established pathophysiologic processes, as for example in the case of neurodegeneration or lesions. The aim of this study was to assess clinical features that contribute to the specific phenotypic presentations and disease course of FMD. Methods: The study consisted of 100 patients with FMD treated at Clinic for Neurology, Clinical Center of Serbia, who were longitudinally observed. Comprehensive clinical and psychiatric assessment was performed at the baseline, when initial FMD phenotype was defined. Follow-up assessment of phenotypic pattern over the time and clinical course was done after 3.2 ± 2.5 years at average. Results: We showed that 48% of FMD patients were prone to changes of phenotypic pattern during the disease course. Dystonia had tendency to remains as single and unchanged phenotype over the time (68.2%), while patients initially presented with Tremor, Gait disorder, Parkinsonism and Mixed phenotype were more susceptible to developing additional symptoms (62.5, 50, and 100%, respectively). Higher levels of somatoform experiences (p = 0.033, Exp(B) = 1.082) and higher motor severity (p = 0.040, Exp(B) = 1.082) at baseline assessment were associated with an increased likelihood of further enriching of FMD phenotype with additional functional symptoms. Also, these patients more frequently reported pain, and had higher scores on majority of applied psychiatric scales, together with more frequent presence of major depressive disorder. Conclusion: Results from this prospective study suggested tendency for progression and enrichment of functional symptoms in FMD patients over time. Besides functional core symptoms, other key psychological and physical features (like pain or multiple somatisations) were quite relevant for chronicity and significant dysability of FMD patients. © Copyright © 2020 Tomić, Ječmenica Lukić, Petrović, Svetel, Dragašević Mišković, Kresojević, Marković and Kostić.

Introduction: Functional movement disorders (FMD) refer to a group of movement disorders that present with clinical characteristics incongruent to those due to established pathophysiologic processes, as for example in the case of neurodegeneration or lesions. The aim of this study was to assess clinical features that contribute to the specific phenotypic presentations and disease course of FMD. Methods: The study consisted of 100 patients with FMD treated at Clinic for Neurology, Clinical Center of Serbia, who were longitudinally observed. Comprehensive clinical and psychiatric assessment was performed at the baseline, when initial FMD phenotype was defined. Follow-up assessment of phenotypic pattern over the time and clinical course was done after 3.2 ± 2.5 years at average. Results: We showed that 48% of FMD patients were prone to changes of phenotypic pattern during the disease course. Dystonia had tendency to remains as single and unchanged phenotype over the time (68.2%), while patients initially presented with Tremor, Gait disorder, Parkinsonism and Mixed phenotype were more susceptible to developing additional symptoms (62.5, 50, and 100%, respectively). Higher levels of somatoform experiences (p = 0.033, Exp(B) = 1.082) and higher motor severity (p = 0.040, Exp(B) = 1.082) at baseline assessment were associated with an increased likelihood of further enriching of FMD phenotype with additional functional symptoms. Also, these patients more frequently reported pain, and had higher scores on majority of applied psychiatric scales, together with more frequent presence of major depressive disorder. Conclusion: Results from this prospective study suggested tendency for progression and enrichment of functional symptoms in FMD patients over time. Besides functional core symptoms, other key psychological and physical features (like pain or multiple somatisations) were quite relevant for chronicity and significant dysability of FMD patients. © Copyright © 2020 Tomić, Ječmenica Lukić, Petrović, Svetel, Dragašević Mišković, Kresojević, Marković and Kostić.

Introduction: Classic form of pantothenate-kinase-associated neurodegeneration (PKAN), caused by mutation in PANK2 gene, is characterized by early onset, severe neurological impairment and rapid disease progression. In less precisely described form of atypical PKAN, clinical course is associated with late onset, less severe motor impairment and slower disease evolution. The aim of this study was to assess a pattern of disease progression in atypical PKAN, by following development of specific milestones. Methods: The clinical characteristics and the disease course of 9 genetically confirmed patients with atypical form of PKAN were evaluated. Time latencies from the disease onset to the appearance of specific clinical milestones were estimated in order to assess the disease progression. Results: Most frequent disease presentation in our patients was characterized with early and prominent oromandibular dystonia (OMD), followed by severe generalized dystonia and early loss of mobility within the first five years of prolonged disease duration (18.7±10.0 years). Eight out of 9 patients reached 7 significant clinical milestones (OMD, generalized dystonia, dysarthria, dysphagia, postural instability, gait difficulties, ADL dependency) in the first 4.6 years of disease course. Afterwards, a long-lasting, relatively stable period of slower progression was complicated predominantly with skeletal deformities (developed after 7.0±2.8 years). Conclusions: Majority of milestones which might significantly influence functional abilities and quality of life in patients with atypical form of PKAN developed in the course of the first five years of the disease, followed by a long-lasting, relatively stable period of slower progression. © 2015 Elsevier Ltd.

Introduction: Classic form of pantothenate-kinase-associated neurodegeneration (PKAN), caused by mutation in PANK2 gene, is characterized by early onset, severe neurological impairment and rapid disease progression. In less precisely described form of atypical PKAN, clinical course is associated with late onset, less severe motor impairment and slower disease evolution. The aim of this study was to assess a pattern of disease progression in atypical PKAN, by following development of specific milestones. Methods: The clinical characteristics and the disease course of 9 genetically confirmed patients with atypical form of PKAN were evaluated. Time latencies from the disease onset to the appearance of specific clinical milestones were estimated in order to assess the disease progression. Results: Most frequent disease presentation in our patients was characterized with early and prominent oromandibular dystonia (OMD), followed by severe generalized dystonia and early loss of mobility within the first five years of prolonged disease duration (18.7±10.0 years). Eight out of 9 patients reached 7 significant clinical milestones (OMD, generalized dystonia, dysarthria, dysphagia, postural instability, gait difficulties, ADL dependency) in the first 4.6 years of disease course. Afterwards, a long-lasting, relatively stable period of slower progression was complicated predominantly with skeletal deformities (developed after 7.0±2.8 years). Conclusions: Majority of milestones which might significantly influence functional abilities and quality of life in patients with atypical form of PKAN developed in the course of the first five years of the disease, followed by a long-lasting, relatively stable period of slower progression. © 2015 Elsevier Ltd.

Introduction: Although one of the most common monogenic late-onset neurodegenerative disorders, fragile-X-associated tremor/ataxia syndrome (FXTAS) is still underdiagnosed. The aim of the present study was to estimate the frequency of premutation carriers in patients with unexplained degenerative ataxias, action tremor or parkinsonism, and action tremor with or without associated cognitive impairment. Methods: The study comprised 100 consecutive patients with the disease onset >49 years who had any form of unexplained action tremor, cerebellar ataxia, followed by parkinsonism with or without incipient dementia, and in whom the FMR1 repeats size was determined. Results: Premutation in the FMR1 was identified in two patients (2%): the first, male patient had 83 CGG repeats and the second, female patient had 32 and 58 CGG repeats. Discussion/Conclusion: FXTAS was relatively rare among older patients with unexplained ataxia and action tremor, with or without parkinsonism and/or cognitive impairment. Tremor and ataxia were major clinical features in our two patients, although parkinsonism, autonomic dysfunction and psychiatric problems might be an important part of the spectrum. Probable FXTAS should be considered in the differential diagnosis of patients with unexplained action tremor and ataxia, and undetermined parkinsonism, especially when there was a positive family history for involuntary movement disorders in other family members and/or autism spectrum disorders in younger cousins. © 2021 Informa UK Limited, trading as Taylor & Francis Group.

Introduction: Although one of the most common monogenic late-onset neurodegenerative disorders, fragile-X-associated tremor/ataxia syndrome (FXTAS) is still underdiagnosed. The aim of the present study was to estimate the frequency of premutation carriers in patients with unexplained degenerative ataxias, action tremor or parkinsonism, and action tremor with or without associated cognitive impairment. Methods: The study comprised 100 consecutive patients with the disease onset >49 years who had any form of unexplained action tremor, cerebellar ataxia, followed by parkinsonism with or without incipient dementia, and in whom the FMR1 repeats size was determined. Results: Premutation in the FMR1 was identified in two patients (2%): the first, male patient had 83 CGG repeats and the second, female patient had 32 and 58 CGG repeats. Discussion/Conclusion: FXTAS was relatively rare among older patients with unexplained ataxia and action tremor, with or without parkinsonism and/or cognitive impairment. Tremor and ataxia were major clinical features in our two patients, although parkinsonism, autonomic dysfunction and psychiatric problems might be an important part of the spectrum. Probable FXTAS should be considered in the differential diagnosis of patients with unexplained action tremor and ataxia, and undetermined parkinsonism, especially when there was a positive family history for involuntary movement disorders in other family members and/or autism spectrum disorders in younger cousins. © 2021 Informa UK Limited, trading as Taylor & Francis Group.