Marina Picillo - Academia.edu (original) (raw)

Papers by Marina Picillo

Resting-state brain connectivity in patients with Parkinson's disease and freezing of gait

Parkinsonism & related disorders, 2012

Freezing of gait is a common cause of disability and falls in patients with Parkinson's disea... more Freezing of gait is a common cause of disability and falls in patients with Parkinson's disease. We studied brain functional connectivity, by means of resting-state functional magnetic resonance imaging, in patients with Parkinson's disease and freezing of gait. Resting-state functional magnetic resonance imaging at 3 T was collected in 29 patients with Parkinson's disease, of whom 16 presented with freezing of gait as determined by a validated freezing of gait questionnaire, and 15 matched healthy controls. Single-subject and group-level independent component analysis was used to identify the main resting-state networks differing between Parkinson's disease patients with and without freezing of gait. Statistical analysis was performed using BrainVoyager QX. Between-group differences in resting-state networks revealed that patients with freezing of gait exhibit significantly reduced functional connectivity within both "executive-attention" (in the right mid...

Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania

Journal of Parkinson's disease, 2014

PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutat... more PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene and G2019S is considered the most frequent mutation in the Caucasian population, in particular in the Southern Europe and Mediterranean countries. We assessed the frequency of the G2019S and R1441C/H/G mutations in 513 (311 M and 202 F) unrelated PD patients from Campania, in Southern Italy. Three hundreds and thirty-six patients presented a sporadic disease, and 177 had a familial history of PD or tremor. Three hundreds and eighty cases originated from the province of Naples. We compared our LRRK2 mutation carriers to idiopathic PD patients matched for recruiting center, gender, age and age at onset. Thirteen patients (8 M and 5 F) carried the R1441C mutation and 4 (3 M and 1 F) the G2019S mutation, all in heterozygous state. All carriers originated from the province of Naples. No carriers of the R1441H or R1441G mutations were found...

Journal of neurology, 2014

PloS one, 2013

The variability in the clinical phenotype of Parkinson's disease seems to suggest the existen... more The variability in the clinical phenotype of Parkinson's disease seems to suggest the existence of several subtypes of the disease. To test this hypothesis we performed a cluster analysis using data assessing both motor and non-motor symptoms in a large cohort of newly diagnosed untreated PD patients. We collected data on demographic, motor, and the whole complex of non-motor symptoms from 100 consecutive newly diagnosed untreated outpatients. Statistical cluster analysis allowed the identification of different subgroups, which have been subsequently explored. The data driven approach identified four distinct groups of patients, we have labeled: 1) Benign Pure Motor; 2) Benign mixed Motor-Non-Motor; 3) Non-Motor Dominant; and 4) Motor Dominant. Our results confirmed the existence of different subgroups of early PD patients. Cluster analysis revealed the presence of distinct subtypes of patients profiled according to the relevance of both motor and non-motor symptoms. Identificat...

Journal of Neurology, 2013

Word count paper/abstract: 2.214/258

Comment on Szewczyk-Krolikowski et al.: the influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort

Parkinsonism & related disorders, 2014

Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy

JAMA Neurology, 2014

A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It star... more A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was an upgaze supranuclear palsy and slow saccades on vertical plane. Magnetic resonance imaging was performed that revealed significant basal ganglia lesions and white matter hyperintensities, including periventricular regions and both frontal and temporal subcortical areas, along with moderate widespread atrophy and ventricular enlargement. Here, we reveal the pathological diagnosis and discuss the approach to the clinical data.

Movement Disorders, 2015

A B S T R AC T : The variability in the clinical phenotype of Parkinson's disease (PD) suggests t... more A B S T R AC T : The variability in the clinical phenotype of Parkinson's disease (PD) suggests the existence of several subtypes of the disease. Motor heterogeneity of PD is well established, but not nonmotor heterogeneity. At present, we are unable to predict the rate of progression of PD based on robust biomarkers. We aimed to examine the heterogeneity of PD by attempting to identify nonmotor factors associated with the rate of motor progression and functional decline, as measured by the time to reach the need for levodopa therapy during the first 4 years from diagnosis in a cohort of de novo PD patients. The median time to introduction of L-dopa for patients with urinary symptoms was significantly shorter than that for those without (20 vs. 37 months; P 5 0.001). Cox's regression models showed that the urinary domain was associated with a higher probability of starting L-dopa (hazard ratio: 2.1; P 5 0.002). There was no influence of such confounders as sex, age, baseline motor features, use of dopamine agonists and/or monoamine oxidase B inhibitors, and total Ldopa equivalent daily dosage. Patients with urinary symptoms had higher baseline and follow-up motor and nonmotor disturbances than those without. Our study suggests the existence of a subgroup of patients who show urinary symptoms along with an overall higher motor and nonmotor burden. Such patients are prone to manifest a rapid functional decline over the first 4 years of the disease. Urinary symptoms might be a clinical marker of severity as well as a possible nonmotor subtype of PD. V C 2015 International Parkinson and Movement Disorder Society

Movement disorders : official journal of the Movement Disorder Society, Jan 15, 2009

Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA-P) and a cereb... more Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA-P) and a cerebellar (MSA-C) variant based on clinical presentation. We obtained diffusion-weighted magnetic resonance imaging (DWI) in 9 MSA-P and 12 MSA-C patients and 11 controls, and correlated DWI changes with disease duration and severity. We found that Trace (D) values in the entire and anterior putamen were significantly higher in MSA-P than in MSA-C patients and controls, whereas Trace (D) values in the cerebellum and middle cerebellar peduncle (MCP) were significantly higher in MSA-C than in MSA-P patients and controls. Increased disease duration was significantly correlated with increased Trace (D) values in pons of MSA-P patients, and in cerebellum and MCP of MSA-C patients. Both UMSARS and UPDRS motor scores positively correlated with entire and posterior putaminal Trace (D) values in MSA-P patients. The diffusivity changes parallel phenotypical and pathologic differences between MSA-P and...

American Journal of Neuroradiology, 2012

BACKGROUND AND PURPOSE: FOG is a troublesome symptom of PD. Despite growing evidence suggesting t... more BACKGROUND AND PURPOSE: FOG is a troublesome symptom of PD. Despite growing evidence suggesting that FOG in PD may be associated with cognitive dysfunction, the relationship between regional brain atrophy and FOG has been poorly investigated.

Resting-state brain connectivity in patients with Parkinson's disease and freezing of gait

Parkinsonism & related disorders, 2012

Freezing of gait is a common cause of disability and falls in patients with Parkinson's disea... more Freezing of gait is a common cause of disability and falls in patients with Parkinson's disease. We studied brain functional connectivity, by means of resting-state functional magnetic resonance imaging, in patients with Parkinson's disease and freezing of gait. Resting-state functional magnetic resonance imaging at 3 T was collected in 29 patients with Parkinson's disease, of whom 16 presented with freezing of gait as determined by a validated freezing of gait questionnaire, and 15 matched healthy controls. Single-subject and group-level independent component analysis was used to identify the main resting-state networks differing between Parkinson's disease patients with and without freezing of gait. Statistical analysis was performed using BrainVoyager QX. Between-group differences in resting-state networks revealed that patients with freezing of gait exhibit significantly reduced functional connectivity within both "executive-attention" (in the right mid...

Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania

Journal of Parkinson's disease, 2014

PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutat... more PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene and G2019S is considered the most frequent mutation in the Caucasian population, in particular in the Southern Europe and Mediterranean countries. We assessed the frequency of the G2019S and R1441C/H/G mutations in 513 (311 M and 202 F) unrelated PD patients from Campania, in Southern Italy. Three hundreds and thirty-six patients presented a sporadic disease, and 177 had a familial history of PD or tremor. Three hundreds and eighty cases originated from the province of Naples. We compared our LRRK2 mutation carriers to idiopathic PD patients matched for recruiting center, gender, age and age at onset. Thirteen patients (8 M and 5 F) carried the R1441C mutation and 4 (3 M and 1 F) the G2019S mutation, all in heterozygous state. All carriers originated from the province of Naples. No carriers of the R1441H or R1441G mutations were found...

Journal of neurology, 2014

PloS one, 2013

The variability in the clinical phenotype of Parkinson's disease seems to suggest the existen... more The variability in the clinical phenotype of Parkinson's disease seems to suggest the existence of several subtypes of the disease. To test this hypothesis we performed a cluster analysis using data assessing both motor and non-motor symptoms in a large cohort of newly diagnosed untreated PD patients. We collected data on demographic, motor, and the whole complex of non-motor symptoms from 100 consecutive newly diagnosed untreated outpatients. Statistical cluster analysis allowed the identification of different subgroups, which have been subsequently explored. The data driven approach identified four distinct groups of patients, we have labeled: 1) Benign Pure Motor; 2) Benign mixed Motor-Non-Motor; 3) Non-Motor Dominant; and 4) Motor Dominant. Our results confirmed the existence of different subgroups of early PD patients. Cluster analysis revealed the presence of distinct subtypes of patients profiled according to the relevance of both motor and non-motor symptoms. Identificat...

Journal of Neurology, 2013

Word count paper/abstract: 2.214/258

Comment on Szewczyk-Krolikowski et al.: the influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort

Parkinsonism & related disorders, 2014

Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy

JAMA Neurology, 2014

A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It star... more A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was an upgaze supranuclear palsy and slow saccades on vertical plane. Magnetic resonance imaging was performed that revealed significant basal ganglia lesions and white matter hyperintensities, including periventricular regions and both frontal and temporal subcortical areas, along with moderate widespread atrophy and ventricular enlargement. Here, we reveal the pathological diagnosis and discuss the approach to the clinical data.

Movement Disorders, 2015

A B S T R AC T : The variability in the clinical phenotype of Parkinson's disease (PD) suggests t... more A B S T R AC T : The variability in the clinical phenotype of Parkinson's disease (PD) suggests the existence of several subtypes of the disease. Motor heterogeneity of PD is well established, but not nonmotor heterogeneity. At present, we are unable to predict the rate of progression of PD based on robust biomarkers. We aimed to examine the heterogeneity of PD by attempting to identify nonmotor factors associated with the rate of motor progression and functional decline, as measured by the time to reach the need for levodopa therapy during the first 4 years from diagnosis in a cohort of de novo PD patients. The median time to introduction of L-dopa for patients with urinary symptoms was significantly shorter than that for those without (20 vs. 37 months; P 5 0.001). Cox's regression models showed that the urinary domain was associated with a higher probability of starting L-dopa (hazard ratio: 2.1; P 5 0.002). There was no influence of such confounders as sex, age, baseline motor features, use of dopamine agonists and/or monoamine oxidase B inhibitors, and total Ldopa equivalent daily dosage. Patients with urinary symptoms had higher baseline and follow-up motor and nonmotor disturbances than those without. Our study suggests the existence of a subgroup of patients who show urinary symptoms along with an overall higher motor and nonmotor burden. Such patients are prone to manifest a rapid functional decline over the first 4 years of the disease. Urinary symptoms might be a clinical marker of severity as well as a possible nonmotor subtype of PD. V C 2015 International Parkinson and Movement Disorder Society

Movement disorders : official journal of the Movement Disorder Society, Jan 15, 2009

Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA-P) and a cereb... more Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA-P) and a cerebellar (MSA-C) variant based on clinical presentation. We obtained diffusion-weighted magnetic resonance imaging (DWI) in 9 MSA-P and 12 MSA-C patients and 11 controls, and correlated DWI changes with disease duration and severity. We found that Trace (D) values in the entire and anterior putamen were significantly higher in MSA-P than in MSA-C patients and controls, whereas Trace (D) values in the cerebellum and middle cerebellar peduncle (MCP) were significantly higher in MSA-C than in MSA-P patients and controls. Increased disease duration was significantly correlated with increased Trace (D) values in pons of MSA-P patients, and in cerebellum and MCP of MSA-C patients. Both UMSARS and UPDRS motor scores positively correlated with entire and posterior putaminal Trace (D) values in MSA-P patients. The diffusivity changes parallel phenotypical and pathologic differences between MSA-P and...

American Journal of Neuroradiology, 2012

BACKGROUND AND PURPOSE: FOG is a troublesome symptom of PD. Despite growing evidence suggesting t... more BACKGROUND AND PURPOSE: FOG is a troublesome symptom of PD. Despite growing evidence suggesting that FOG in PD may be associated with cognitive dysfunction, the relationship between regional brain atrophy and FOG has been poorly investigated.