Ilona Csóti - Academia.edu (original) (raw)
Papers by Ilona Csóti
Frontiers in Neurology
Background: Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most com... more Background: Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2-linked PD is clinically indistinguishable from idiopathic PD and inherited in an autosomal dominant fashion with reduced penetrance and variable expressivity that differ across ethnicities and geographic regions.Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in PD patients, unaffected LRRK2 pathogenic variant carriers, and controls. A further focus is to enable the investigation of modifiers of penetrance and expressivity of LRRK2 pathogenic variants using genetic and environmental data.Methods: Eligible participants are invited for a personal or online examination which comprises completion of a detailed eCRF and collection of blood samples (to obtain DNA, RNA, serum/plasma, immune cells), urine as well as household dust. We ...
Journal of Neural Transmission, 2015
General medical problems and complications have a major impact on the quality of life in all stag... more General medical problems and complications have a major impact on the quality of life in all stages of Parkinson’s disease. To introduce an effective treatment, a comprehensive analysis of the various clinical symptoms must be undertaken. One must distinguish between (1) diseases which arise independently of Parkinson’s disease, and (2) diseases which are a direct or indirect consequence of Parkinson’s disease. Medical comorbidity may induce additional limitations to physical strength and coping strategies, and may thus restrict the efficacy of the physical therapy which is essential for treating hypokinetic-rigid symptoms. In selecting the appropriate medication for the treatment of any additional medical symptoms, which may arise, its limitations, contraindications and interactions with dopaminergic substances have to be taken into consideration. General medical symptoms and organ manifestations may also arise as a direct consequence of the autonomic dysfunction associated with Pa...
International Journal of Alzheimer's Disease, 2012
Parkinson’s disease is characterized by a substantial cognitive heterogeneity, which is apparent ... more Parkinson’s disease is characterized by a substantial cognitive heterogeneity, which is apparent in different profiles and levels of severity. To date, a distinct clinical profile for patients with a potential risk of developing dementia still has to be identified. We introduce a data-driven approach to detect different cognitive profiles and stages. Comprehensive neuropsychological data sets from a cohort of 121 Parkinson’s disease patients with and without dementia were explored by a factor analysis to characterize different cognitive domains. Based on the factor scores that represent individual performance in each domain, hierarchical cluster analyses determined whether subgroups of Parkinson’s disease patients show varying cognitive profiles. A six-factor solution accounting for 65.2% of total variance fitted best to our data and revealed high internal consistencies (Cronbach’s alpha coefficients>0.6). The cluster analyses suggested two independent patient clusters with diffe...
Movement Disorders, 2002
We report on a 63-year-old man with idiopathic Parkinson'... more We report on a 63-year-old man with idiopathic Parkinson's disease who developed kyphosis and a severe forward flexion of the thoracolumbar spine. A typical feature was an increase during walking or standing and it completely disappeared in the supine position, mimicking the clinical phenomenon of camptocormia (bent spine). In addition to the abnormal posture, a weakness of the erector spinal muscles, local pain, reddening, and elevated temperature of the paraspinal muscles were evident. Creatine kinase was initially elevated, electromyography showed spontaneous activity and a myopathic pattern. Magnetic resonance imaging and bioptic examinations revealed a focal myositis of the paraspinal muscles. This case indicates that camptocormia can be mimicked by focal myositis of paraspinal muscles and must be included in the differential diagnosis, especially when additional symptoms as inflammatory signs or weakness are present.
Der Nervenarzt, 2004
Tabelle 1 Geschlechtsverteilung, Alter und Schweregrad der Erkrankung zum Zeitpunkt der Untersuch... more Tabelle 1 Geschlechtsverteilung, Alter und Schweregrad der Erkrankung zum Zeitpunkt der Untersuchung sowie Krankheitsdauer der untersuchten 62 Patienten und Kontrollen PSP MSA-P IPS Kontrollen (n=16) (n=14) (n=20) (n=12) Geschlecht (m/w) 12/4
Archives of Neurology, 2001
nteroposterior diameters of the suprapontine midbrain, the pons, and the collicular plate were me... more nteroposterior diameters of the suprapontine midbrain, the pons, and the collicular plate were measured in 50 patients with various parkinsonian syndromes (Parkinson disease [PD] [n=20], progressive supranuclear palsy [PSP] [n=16], and multiple-system atrophy of striatonigral type [n=14]) and 12 age-matched healthy control subjects by means of axial T2-weighted magnetic resonance images. While no differences in midbrain diameter were found between patients with PD (mean, 18.5 mm) and control subjects (mean, 18.2 mm), patients with PSP had significantly lower midbrain diameters (mean, 13.4 mm) than patients with PD and control subjects (PϽ.001), without any overlap between these 2 groups. However, midbrain diameters of patients with multiple-system atrophy were also significantly lower than those of control subjects and patients with PD, with individual values showing overlap with the PSP, PD, and control groups. Pontine and collicular plate diameters did not contribute additional information. We therefore conclude that measurement of anteroposterior diameter of the midbrain on axial T2-weighted magnetic resonance images is a reliable means to differentiate patients with PSP from those with PD and should be incorporated into the diagnostic criteria for PSP.
Fortschritte der Neurologie-Psychiatrie, 2018
Epidemiological studies suggest an association of certain foods with the risk of Parkinson's ... more Epidemiological studies suggest an association of certain foods with the risk of Parkinson's disease. Also, a number of studies revaeled positive effects on disease progression by caffeine, higher uric acid and total cholesterol levels - especially in men. However, it is not yet clear whether a specific dietary concept or the effects of the intestinal microbiota on the human metabolism could play a role in the course of the disease. Given the lack of prospective nutrition studies, only general recommendations can be given: a "balanced" seasonal regional diet with emphasis on vegetables, fruits, nuts, fish, low amount of red meat, and non-processed foods with a low level of simple carbohydrates may be helpful. Especially for the elderly, a low-protein diet should be avoided. Rather, in order to prevent the development of sarcopenia and malnutrition, particular attention must be paid to adequate protein intake. The supply of vitamins B12 and D3 must be ensured - at the s...
Ideggyogyaszati szemle, 2010
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.
Journal of Neurology, 2008
Parkinson’s disease (PD) is characterized by its motor impairment. However, non-motor symptoms su... more Parkinson’s disease (PD) is characterized by its motor impairment. However, non-motor symptoms such as psychiatric disorders, autonomic disturbances and sleep disorders frequently complicate the course of the disease. In particular, psychiatric disturbances including cognitive impairment, depression and psychosis impact these patients considerably. Approximately 31 % of PD patients suffer from cognitive impairment and dementia. Currently, two different clinical presentations
Ideggyógyászati szemle, Jan 30, 2010
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.
Ideggyógyászati szemle
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.
Frontiers in Neurology
Background: Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most com... more Background: Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2-linked PD is clinically indistinguishable from idiopathic PD and inherited in an autosomal dominant fashion with reduced penetrance and variable expressivity that differ across ethnicities and geographic regions.Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in PD patients, unaffected LRRK2 pathogenic variant carriers, and controls. A further focus is to enable the investigation of modifiers of penetrance and expressivity of LRRK2 pathogenic variants using genetic and environmental data.Methods: Eligible participants are invited for a personal or online examination which comprises completion of a detailed eCRF and collection of blood samples (to obtain DNA, RNA, serum/plasma, immune cells), urine as well as household dust. We ...
Journal of Neural Transmission, 2015
General medical problems and complications have a major impact on the quality of life in all stag... more General medical problems and complications have a major impact on the quality of life in all stages of Parkinson’s disease. To introduce an effective treatment, a comprehensive analysis of the various clinical symptoms must be undertaken. One must distinguish between (1) diseases which arise independently of Parkinson’s disease, and (2) diseases which are a direct or indirect consequence of Parkinson’s disease. Medical comorbidity may induce additional limitations to physical strength and coping strategies, and may thus restrict the efficacy of the physical therapy which is essential for treating hypokinetic-rigid symptoms. In selecting the appropriate medication for the treatment of any additional medical symptoms, which may arise, its limitations, contraindications and interactions with dopaminergic substances have to be taken into consideration. General medical symptoms and organ manifestations may also arise as a direct consequence of the autonomic dysfunction associated with Pa...
International Journal of Alzheimer's Disease, 2012
Parkinson’s disease is characterized by a substantial cognitive heterogeneity, which is apparent ... more Parkinson’s disease is characterized by a substantial cognitive heterogeneity, which is apparent in different profiles and levels of severity. To date, a distinct clinical profile for patients with a potential risk of developing dementia still has to be identified. We introduce a data-driven approach to detect different cognitive profiles and stages. Comprehensive neuropsychological data sets from a cohort of 121 Parkinson’s disease patients with and without dementia were explored by a factor analysis to characterize different cognitive domains. Based on the factor scores that represent individual performance in each domain, hierarchical cluster analyses determined whether subgroups of Parkinson’s disease patients show varying cognitive profiles. A six-factor solution accounting for 65.2% of total variance fitted best to our data and revealed high internal consistencies (Cronbach’s alpha coefficients>0.6). The cluster analyses suggested two independent patient clusters with diffe...
Movement Disorders, 2002
We report on a 63-year-old man with idiopathic Parkinson'... more We report on a 63-year-old man with idiopathic Parkinson's disease who developed kyphosis and a severe forward flexion of the thoracolumbar spine. A typical feature was an increase during walking or standing and it completely disappeared in the supine position, mimicking the clinical phenomenon of camptocormia (bent spine). In addition to the abnormal posture, a weakness of the erector spinal muscles, local pain, reddening, and elevated temperature of the paraspinal muscles were evident. Creatine kinase was initially elevated, electromyography showed spontaneous activity and a myopathic pattern. Magnetic resonance imaging and bioptic examinations revealed a focal myositis of the paraspinal muscles. This case indicates that camptocormia can be mimicked by focal myositis of paraspinal muscles and must be included in the differential diagnosis, especially when additional symptoms as inflammatory signs or weakness are present.
Der Nervenarzt, 2004
Tabelle 1 Geschlechtsverteilung, Alter und Schweregrad der Erkrankung zum Zeitpunkt der Untersuch... more Tabelle 1 Geschlechtsverteilung, Alter und Schweregrad der Erkrankung zum Zeitpunkt der Untersuchung sowie Krankheitsdauer der untersuchten 62 Patienten und Kontrollen PSP MSA-P IPS Kontrollen (n=16) (n=14) (n=20) (n=12) Geschlecht (m/w) 12/4
Archives of Neurology, 2001
nteroposterior diameters of the suprapontine midbrain, the pons, and the collicular plate were me... more nteroposterior diameters of the suprapontine midbrain, the pons, and the collicular plate were measured in 50 patients with various parkinsonian syndromes (Parkinson disease [PD] [n=20], progressive supranuclear palsy [PSP] [n=16], and multiple-system atrophy of striatonigral type [n=14]) and 12 age-matched healthy control subjects by means of axial T2-weighted magnetic resonance images. While no differences in midbrain diameter were found between patients with PD (mean, 18.5 mm) and control subjects (mean, 18.2 mm), patients with PSP had significantly lower midbrain diameters (mean, 13.4 mm) than patients with PD and control subjects (PϽ.001), without any overlap between these 2 groups. However, midbrain diameters of patients with multiple-system atrophy were also significantly lower than those of control subjects and patients with PD, with individual values showing overlap with the PSP, PD, and control groups. Pontine and collicular plate diameters did not contribute additional information. We therefore conclude that measurement of anteroposterior diameter of the midbrain on axial T2-weighted magnetic resonance images is a reliable means to differentiate patients with PSP from those with PD and should be incorporated into the diagnostic criteria for PSP.
Fortschritte der Neurologie-Psychiatrie, 2018
Epidemiological studies suggest an association of certain foods with the risk of Parkinson's ... more Epidemiological studies suggest an association of certain foods with the risk of Parkinson's disease. Also, a number of studies revaeled positive effects on disease progression by caffeine, higher uric acid and total cholesterol levels - especially in men. However, it is not yet clear whether a specific dietary concept or the effects of the intestinal microbiota on the human metabolism could play a role in the course of the disease. Given the lack of prospective nutrition studies, only general recommendations can be given: a "balanced" seasonal regional diet with emphasis on vegetables, fruits, nuts, fish, low amount of red meat, and non-processed foods with a low level of simple carbohydrates may be helpful. Especially for the elderly, a low-protein diet should be avoided. Rather, in order to prevent the development of sarcopenia and malnutrition, particular attention must be paid to adequate protein intake. The supply of vitamins B12 and D3 must be ensured - at the s...
Ideggyogyaszati szemle, 2010
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.
Journal of Neurology, 2008
Parkinson’s disease (PD) is characterized by its motor impairment. However, non-motor symptoms su... more Parkinson’s disease (PD) is characterized by its motor impairment. However, non-motor symptoms such as psychiatric disorders, autonomic disturbances and sleep disorders frequently complicate the course of the disease. In particular, psychiatric disturbances including cognitive impairment, depression and psychosis impact these patients considerably. Approximately 31 % of PD patients suffer from cognitive impairment and dementia. Currently, two different clinical presentations
Ideggyógyászati szemle, Jan 30, 2010
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.
Ideggyógyászati szemle
Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient ... more Atypical Parkinson syndromes are distinguished from idiopathic Parkinson disease by insufficient or missing response to dopaminergic replacement therapy and therefore they have significantly unfavorable prognoses. Early differential diagnosis is very important for the patient. It enables the therapist to give suitable consults, to avoid unnecessary or inappropriate therapy, which are not free of medication side effects and furthermore facilitates the selection of adapted symptomatically medical and physical measures of treatment. In case of future development of neuroprotective or causally therapy strategies correct diagnosis will allow an early start of therapy The differential diagnosis separation of the three clinical pictures from the idiopathic Parkinson disease with clinical criteria might be difficult in the early stage of disease. Additional neuroimaging and nuclear medical investigations may support the clinical probable diagnosis.