Parkinson's disease (PD) is a complex neurodegenerative disease with motor and non‐motor symp... more Parkinson's disease (PD) is a complex neurodegenerative disease with motor and non‐motor symptoms. Diagnosis is complicated by lack of reliable biomarkers. To individuate peptides and/or proteins with diagnostic potential for early diagnosis, severity and discrimination from similar pathologies, the salivary proteome in 36 PD patients was investigated in comparison with 36 healthy controls (HC) and 35 Alzheimer's disease (AD) patients. A top‐down platform based on HPLC‐ESI‐IT‐MS allowed characterizing and quantifying intact peptides, small proteins and their PTMs (overall 51). The three groups showed significantly different protein profiles, PD showed the highest levels of cystatin SA and antileukoproteinase and the lowest of cystatin SN and some statherin proteoforms. HC exhibited the lowest abundance of thymosin β4, short S100A9, cystatin A, and dimeric cystatin B. AD patients showed the highest abundance of α‐defensins and short oxidized S100A9. Moreover, different proteo...
Parkinson’s disease (PD) patients using dopamine agonists can develop withdrawal symptoms, referr... more Parkinson’s disease (PD) patients using dopamine agonists can develop withdrawal symptoms, referred to as dopamine agonist withdrawal syndrome (DAWS), under dose tapering or discontinuation of these drugs. DAWS includes a severe stereotypical cluster of psychiatric and psychological symptoms encompassing severe mood and anxiety disturbances, autonomic symptoms, as well as generalized pain and drug cravings. However, symptoms of withdrawal of dopamine replacement therapies (DRT) are not simply limited to dopamine agonists tapering, as observed in PD patients on deep brain stimulation after dopaminergic drugs withdrawal related to surgery. To date, no DRT-related withdrawal syndrome has been described in PD patients who discontinue rasagiline, an irreversible inhibitor of monoamine oxidase-B (MAO-B). Here we report three PD patients who developed a severe withdrawal syndrome after rasagiline suspension. The syndrome was mainly characterized by prominent psychiatric disorders (depressi...
Background: Parkinson’s disease (PD) may present different motor subtypes depending on the predom... more Background: Parkinson’s disease (PD) may present different motor subtypes depending on the predominant symptoms (tremor or rigidity/bradykinesia). Slower disease progression and cognitive decline were observed in tremor-dominant (TD) patients compared to those with the akinetic-rigid dominant (ARD) subtype. Although olfactory dysfunctions are well-known disturbances in PD patients, correlations among PD different subtypes and olfactory impairment were not clearly studied. Thus, we investigated the possible olfactory impairment in PD patients with TD and ARD subtypes as compared to healthy controls. Methods: A sample of 132 participants were enrolled: 62 PD patients divided into ARD (n = 42) and TD (n = 20) subgroups using tremor/rigidity ratio, and 70 healthy controls. Olfactory function was assessed with the Sniffin’ Sticks Test. Results: Odor threshold was significantly lower in the ARD than in the TD subtype, while odor identification, discrimination scores, and their sum (TDI sc...
Background: Non-motor symptoms in Parkinson’s disease (PD) are often associated with a negative i... more Background: Non-motor symptoms in Parkinson’s disease (PD) are often associated with a negative impact on the patients’ quality of life and on their weight regulation. The aim of this study was to assess the effect of olfactory and gustatory dysfunction, apathy, fatigue, depression, and motor symptoms on weight regulation in PD patients. Methods: We analyzed 112 participants, 63 PD patients (mean age ± SD: 69.2 ± 10.1), and 49 controls (mean age ± SD: 68 ± 9.6). For each participant we collected age, weight, height, BMI, olfactory and gustatory function, cognitive performance, apathy and fatigue. Results: Our data showed that 61.9% (n = 39) of PD patients had hyposmia, while 38.1% (n = 24) had anosmia. In PD patients, we observed a significant effect of Unified Parkinson’s Disease Rating Scale (UPDRS), apathy, odor threshold, sweet perception and fatigue on weight regulation. Instead, there was no significant effect for depression and levodopa equivalent daily dosage (LEDD). Conclus...
Background: Olfactory dysfunctions and hallucinations are considered common nonmotor symptoms in ... more Background: Olfactory dysfunctions and hallucinations are considered common nonmotor symptoms in Parkinson’s disease (PD). Visual and auditory hallucinations are well-known; however, olfactory hallucinations (OHs) are not fully investigated. The aim of this study was to evaluate OHs in PD patients, and their correlation to motor impairment, cognitive abilities, visual and auditory hallucinations, and olfactory and gustatory function. Methods: A sample of 273 patients was enrolled: 141 PD patients (mean age ± SD: 70.1 ± 9.5 years) and 132 healthy controls (mean age ± SD: 69.4 ± 9.6 years). In all patients, the following parameters were evaluated: motor symptoms (UPDRS-III), olfactory function, cognitive abilities, and occurrence of OH, gustatory hallucinations (GHs), and visual/auditory hallucinations. Results: OHs were found only in PD patients with a percentage of 11.3%. Among PD patients with OHs, 2.8% also presented GHs. High significant frequencies of females, the presence of vi...
Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD).... more Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBArelated PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. Conclusions: GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles.
Introduction: Adult onset laryngeal dystonia (LD) can be isolated or can be associated to dystoni... more Introduction: Adult onset laryngeal dystonia (LD) can be isolated or can be associated to dystonia in other body parts. Combined forms can be segmental at the onset or can result from dystonia spread to or from larynx. Aim of this study is to identify main clinical and demographic features of adult onset idiopathic LD in an Italian population with special focus on dystonia spread. Methods: Data were obtained from the Italian Dystonia Registry (IDR) produced by 37 Italian Institutions. Clinical and demographic data of 71 patients with idiopathic adult-onset LD were extracted from a pool of 1131 subjects included in the IDR. Results: 50 of 71 patients presented a laryngeal focal onset, remaining subjects had onset in other body regions and later laryngeal spread. The two groups did not show significant differences of demographic features. 32% of patients with laryngeal onset reported spread to contiguous body regions afterwards and in most of cases (12 of 16 subjects) dystonia started to spread within one year from the onset. LD patients who remained focal and those who had dystonia spread did not show other differences. Discussion: data from IDR show that Accepted Article This article is protected by copyright. All rights reserved dystonic patients with focal laryngeal onset will present spread in almost one third of cases. Spread from larynx occurs early and it is directed to contiguous body regions showing similarities with clinical progression of blepharospasm. This study gives a new accurate description of LD phenomenology that may contribute to improve the comprehension of dystonia pathophysiology.
The role of specific sex-related patterns in olfactory dysfunctions of Parkinson's disease (PD) p... more The role of specific sex-related patterns in olfactory dysfunctions of Parkinson's disease (PD) patients is unclear. The aim of this study was to assess the presence of specific sex-related patterns in olfactory dysfunctions excluding the possibility of confounding effects in patients with Parkinson's disease. One hundred and sixty-eight participants (99 PD patients and 69 controls) were enrolled and evaluated using Sniffin' Sticks Extended test (SSET). There was no significant sex difference in the control group for the SSET parameters. By contrast, in the PD group male patients scored significantly lower on odor discrimination (OD), identification (OI), and Threshold-Discrimination-Identification (TDI) score than females. On multivariable linear regression analysis, the only significant predictors of TDI score were sex and apathy. Among PD patients, men showed a significantly greater impairment compared to women in OI, OD and TDI score, but not in odor threshold (OT). These findings highlighted the possible role of sex differences in the development of associated PD non-motor symptoms.
Dementia with Lewy body is a neurodegenerative disorder affecting both cognitive and motor domain... more Dementia with Lewy body is a neurodegenerative disorder affecting both cognitive and motor domains. Motor impairment manifests predominantly as a symmetrical/mild asymmetrical parkinsonian syndrome that is only mildly responsive to Levodopa. To characterize motor dysfunction in dementia with Lewy body, we quantitatively assessed upper limb movements using a motion-capture system. Ten patients and ten healthy controls were tested while performing the hand-to-mouth movement of which speed, smoothness and accuracy features were measured. The results showed that individuals with dementia with Lewy body required a longer time to complete the task, particularly due to a prolonged duration of the adjusting phase (i.e., when approaching the target/mouth). The overall motor performance of dementia with Lewy body patients closely resembled what previously observed in patients affected by both Parkinson's disease and ataxia while performing the same task. Moreover, the severity of parkinsonian symptoms as assessed by the UPDRS-III scale impacted on the velocity of movement alone whereas impairment of executive functions correlated with variables related to the phase of targeting the mouth. This study provides new information about upper limb motor dysfunction in dementia with Lewy body.
The Journal of Alternative and Complementary Medicine, 2019
OBJECTIVES Among different exercise models proposed for individuals with Parkinson's disease ... more OBJECTIVES Among different exercise models proposed for individuals with Parkinson's disease (IwPD), the popularity of traditional forms of dance is increasing. The aim of this study was to evaluate the effects of Sardinian folk dance (Ballu Sardu, BS) on functional performance and motor and nonmotor symptoms in IwPD. DESIGN Single-blind, randomized controlled pilot trial. SETTINGS Outpatient health clinic. SUBJECTS AND INTERVENTIONS Twenty IwPD (13M, 7F; 67.4 ± 6.1 years) were randomly assigned to BS (n = 10) or usual care (n = 10). The dance program consisted of two sessions/week, 90-min/class, for 12 weeks. OUTCOME MEASURES Motor and nonmotor symptoms, as well as functional performance, were evaluated using different questionnaires and tests such as the Unified Parkinson's Disease Rating Scale Part-III (UPDRS-III), 6-min walking test (6MWT), Berg Balance Scale (BBS), Timed Up-and-Go (TUG) test, Five Times Sit-to-Stand Test (FTSST), Back Scratch Test (BST), Sit-and-Reach Test (SRT), instrumented gait analysis, Parkinson's Disease Fatigue Scale (PFS-16), Beck Depression Inventory, Starkstein Apathy Scale (SAS), and Montreal Cognitive Assessment (MOCA) scale. RESULTS Repeated-measures analysis of variance revealed significant Time × Group interactions for UPDRS-III and functional variables such as the 6MWT, BBS, FTSST, TUG (all, p < 0.001), BST (p = 0.04), and gait analysis parameters (stride length, p = 0.031; gait speed, p = 0.049; and gait fatigue index (GFI), p = 0.005). For nonmotor symptoms, significant Time × Group interactions for depression (p < 0.001), apathy (p = 0.016), and MOCA scores (p = 0.012) were observed. Of note, for GFI and SAS, the BS group only showed a trend toward improvement, while the condition of the controls worsened significantly. No between-group differences were observed for SRT and PFS-16. CONCLUSIONS BS is an enjoyable activity, which has been proved to be superior to usual care alone in inducing changes in different motor and nonmotor symptoms associated with PD. Results show that BS can be considered a safe tool for contrasting impairments observed in IwPD due to the intrinsic nature of the neurodegenerative disease.
Introduction: Sensory trick is a specific maneuver that temporarily improves dystonia that is usu... more Introduction: Sensory trick is a specific maneuver that temporarily improves dystonia that is usually observed in 44% to 89% of patients with cranial-cervical dystonia and in 20% of patients with upper limb dystonia. This study aimed to assess the prevalence of sensory trick in a cohort of 37 patients with idiopathic adult-onset upper limb dystonia and to determine whether sensory trick can be a useful tool to distinguish dystonic and non-dystonic tremor. Methods: Thirty-seven right-handed patients with idiopathic upper limb dystonia and disturbed handwriting and 19 patients with non-dystonic action tremor in the upper limb causing writing disturbances participated into the study. Patients were asked to write a standard sentence twice, before and after applying a standardized sensory trick (gently grabbing right wrist with his left hand). Readability of the two sentences was assessed by three observers blinded to diagnosis. Results: Five/37 patients (13%) self-discovered ST over disease history, while performing the standardized trick maneuver improved handwriting in 14/37 patients (38%). Interobserver agreement on the effectiveness of sensory trick among the three observers yielded a kappa value of 0.86 (p<0.0001). The standardized trick was effective in 8/19 patients with dystonic tremor (42%) and in 0/19 patients with non-dystonic tremor (p=0.003). Conclusion: The results of applying a standardized non-spontaneous trick demonstrated that, in upper limb dystonia, ST may be more frequent than usually observed. Effective sensory trick, when present, may be a hallmark of idiopathic dystonia. The lack of effective sensory trick may help to identify non dystonic upper limb tremor.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, Jan 29, 2018
Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, ... more Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia. A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations. The recommendations retained patterned and repetitive movements/postures as the core feature of...
Journal of the peripheral nervous system : JPNS, Jan 16, 2016
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare auto... more We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin gene (GSN) sequencing revealed the heterozygous c.640G>A mutation (p.Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients comes from Finland, although several cases have been reported from other countries. HGA should be considere...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015
We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysi... more We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysing clinical, neuropsychological and imaging characteristics of various members from a large Sardinian kindred with FTD or ALS. We compared these with those of C9 + patients in our ALS and FTD cohorts. Results showed that three patients carried the C9orf72 mutation: two with ALS and one with FTD and Parkinsonism. C9 + patients in our bvFTD Sardinian cohort had a higher frequency of Parkinsonism than non-mutated patients (75% vs. 36.3%, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.02). Parkinsonism was present in 2.7% of our ALS cohort and 3.3% of the C9 + patients. The prevalence of Parkinsonism in C9 + patients in the bvFTD and ALS cohorts showed a statistically significant difference (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.006). In conclusion, Parkinsonism was frequently associated with FTD but not ALS in a large Sardinian family, a finding reflected in the wider C9orf72 associated Sardinian ALS and FTD populations.
Parkinson's disease (PD) is a complex neurodegenerative disease with motor and non‐motor symp... more Parkinson's disease (PD) is a complex neurodegenerative disease with motor and non‐motor symptoms. Diagnosis is complicated by lack of reliable biomarkers. To individuate peptides and/or proteins with diagnostic potential for early diagnosis, severity and discrimination from similar pathologies, the salivary proteome in 36 PD patients was investigated in comparison with 36 healthy controls (HC) and 35 Alzheimer's disease (AD) patients. A top‐down platform based on HPLC‐ESI‐IT‐MS allowed characterizing and quantifying intact peptides, small proteins and their PTMs (overall 51). The three groups showed significantly different protein profiles, PD showed the highest levels of cystatin SA and antileukoproteinase and the lowest of cystatin SN and some statherin proteoforms. HC exhibited the lowest abundance of thymosin β4, short S100A9, cystatin A, and dimeric cystatin B. AD patients showed the highest abundance of α‐defensins and short oxidized S100A9. Moreover, different proteo...
Parkinson’s disease (PD) patients using dopamine agonists can develop withdrawal symptoms, referr... more Parkinson’s disease (PD) patients using dopamine agonists can develop withdrawal symptoms, referred to as dopamine agonist withdrawal syndrome (DAWS), under dose tapering or discontinuation of these drugs. DAWS includes a severe stereotypical cluster of psychiatric and psychological symptoms encompassing severe mood and anxiety disturbances, autonomic symptoms, as well as generalized pain and drug cravings. However, symptoms of withdrawal of dopamine replacement therapies (DRT) are not simply limited to dopamine agonists tapering, as observed in PD patients on deep brain stimulation after dopaminergic drugs withdrawal related to surgery. To date, no DRT-related withdrawal syndrome has been described in PD patients who discontinue rasagiline, an irreversible inhibitor of monoamine oxidase-B (MAO-B). Here we report three PD patients who developed a severe withdrawal syndrome after rasagiline suspension. The syndrome was mainly characterized by prominent psychiatric disorders (depressi...
Background: Parkinson’s disease (PD) may present different motor subtypes depending on the predom... more Background: Parkinson’s disease (PD) may present different motor subtypes depending on the predominant symptoms (tremor or rigidity/bradykinesia). Slower disease progression and cognitive decline were observed in tremor-dominant (TD) patients compared to those with the akinetic-rigid dominant (ARD) subtype. Although olfactory dysfunctions are well-known disturbances in PD patients, correlations among PD different subtypes and olfactory impairment were not clearly studied. Thus, we investigated the possible olfactory impairment in PD patients with TD and ARD subtypes as compared to healthy controls. Methods: A sample of 132 participants were enrolled: 62 PD patients divided into ARD (n = 42) and TD (n = 20) subgroups using tremor/rigidity ratio, and 70 healthy controls. Olfactory function was assessed with the Sniffin’ Sticks Test. Results: Odor threshold was significantly lower in the ARD than in the TD subtype, while odor identification, discrimination scores, and their sum (TDI sc...
Background: Non-motor symptoms in Parkinson’s disease (PD) are often associated with a negative i... more Background: Non-motor symptoms in Parkinson’s disease (PD) are often associated with a negative impact on the patients’ quality of life and on their weight regulation. The aim of this study was to assess the effect of olfactory and gustatory dysfunction, apathy, fatigue, depression, and motor symptoms on weight regulation in PD patients. Methods: We analyzed 112 participants, 63 PD patients (mean age ± SD: 69.2 ± 10.1), and 49 controls (mean age ± SD: 68 ± 9.6). For each participant we collected age, weight, height, BMI, olfactory and gustatory function, cognitive performance, apathy and fatigue. Results: Our data showed that 61.9% (n = 39) of PD patients had hyposmia, while 38.1% (n = 24) had anosmia. In PD patients, we observed a significant effect of Unified Parkinson’s Disease Rating Scale (UPDRS), apathy, odor threshold, sweet perception and fatigue on weight regulation. Instead, there was no significant effect for depression and levodopa equivalent daily dosage (LEDD). Conclus...
Background: Olfactory dysfunctions and hallucinations are considered common nonmotor symptoms in ... more Background: Olfactory dysfunctions and hallucinations are considered common nonmotor symptoms in Parkinson’s disease (PD). Visual and auditory hallucinations are well-known; however, olfactory hallucinations (OHs) are not fully investigated. The aim of this study was to evaluate OHs in PD patients, and their correlation to motor impairment, cognitive abilities, visual and auditory hallucinations, and olfactory and gustatory function. Methods: A sample of 273 patients was enrolled: 141 PD patients (mean age ± SD: 70.1 ± 9.5 years) and 132 healthy controls (mean age ± SD: 69.4 ± 9.6 years). In all patients, the following parameters were evaluated: motor symptoms (UPDRS-III), olfactory function, cognitive abilities, and occurrence of OH, gustatory hallucinations (GHs), and visual/auditory hallucinations. Results: OHs were found only in PD patients with a percentage of 11.3%. Among PD patients with OHs, 2.8% also presented GHs. High significant frequencies of females, the presence of vi...
Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD).... more Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBArelated PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. Conclusions: GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles.
Introduction: Adult onset laryngeal dystonia (LD) can be isolated or can be associated to dystoni... more Introduction: Adult onset laryngeal dystonia (LD) can be isolated or can be associated to dystonia in other body parts. Combined forms can be segmental at the onset or can result from dystonia spread to or from larynx. Aim of this study is to identify main clinical and demographic features of adult onset idiopathic LD in an Italian population with special focus on dystonia spread. Methods: Data were obtained from the Italian Dystonia Registry (IDR) produced by 37 Italian Institutions. Clinical and demographic data of 71 patients with idiopathic adult-onset LD were extracted from a pool of 1131 subjects included in the IDR. Results: 50 of 71 patients presented a laryngeal focal onset, remaining subjects had onset in other body regions and later laryngeal spread. The two groups did not show significant differences of demographic features. 32% of patients with laryngeal onset reported spread to contiguous body regions afterwards and in most of cases (12 of 16 subjects) dystonia started to spread within one year from the onset. LD patients who remained focal and those who had dystonia spread did not show other differences. Discussion: data from IDR show that Accepted Article This article is protected by copyright. All rights reserved dystonic patients with focal laryngeal onset will present spread in almost one third of cases. Spread from larynx occurs early and it is directed to contiguous body regions showing similarities with clinical progression of blepharospasm. This study gives a new accurate description of LD phenomenology that may contribute to improve the comprehension of dystonia pathophysiology.
The role of specific sex-related patterns in olfactory dysfunctions of Parkinson's disease (PD) p... more The role of specific sex-related patterns in olfactory dysfunctions of Parkinson's disease (PD) patients is unclear. The aim of this study was to assess the presence of specific sex-related patterns in olfactory dysfunctions excluding the possibility of confounding effects in patients with Parkinson's disease. One hundred and sixty-eight participants (99 PD patients and 69 controls) were enrolled and evaluated using Sniffin' Sticks Extended test (SSET). There was no significant sex difference in the control group for the SSET parameters. By contrast, in the PD group male patients scored significantly lower on odor discrimination (OD), identification (OI), and Threshold-Discrimination-Identification (TDI) score than females. On multivariable linear regression analysis, the only significant predictors of TDI score were sex and apathy. Among PD patients, men showed a significantly greater impairment compared to women in OI, OD and TDI score, but not in odor threshold (OT). These findings highlighted the possible role of sex differences in the development of associated PD non-motor symptoms.
Dementia with Lewy body is a neurodegenerative disorder affecting both cognitive and motor domain... more Dementia with Lewy body is a neurodegenerative disorder affecting both cognitive and motor domains. Motor impairment manifests predominantly as a symmetrical/mild asymmetrical parkinsonian syndrome that is only mildly responsive to Levodopa. To characterize motor dysfunction in dementia with Lewy body, we quantitatively assessed upper limb movements using a motion-capture system. Ten patients and ten healthy controls were tested while performing the hand-to-mouth movement of which speed, smoothness and accuracy features were measured. The results showed that individuals with dementia with Lewy body required a longer time to complete the task, particularly due to a prolonged duration of the adjusting phase (i.e., when approaching the target/mouth). The overall motor performance of dementia with Lewy body patients closely resembled what previously observed in patients affected by both Parkinson's disease and ataxia while performing the same task. Moreover, the severity of parkinsonian symptoms as assessed by the UPDRS-III scale impacted on the velocity of movement alone whereas impairment of executive functions correlated with variables related to the phase of targeting the mouth. This study provides new information about upper limb motor dysfunction in dementia with Lewy body.
The Journal of Alternative and Complementary Medicine, 2019
OBJECTIVES Among different exercise models proposed for individuals with Parkinson's disease ... more OBJECTIVES Among different exercise models proposed for individuals with Parkinson's disease (IwPD), the popularity of traditional forms of dance is increasing. The aim of this study was to evaluate the effects of Sardinian folk dance (Ballu Sardu, BS) on functional performance and motor and nonmotor symptoms in IwPD. DESIGN Single-blind, randomized controlled pilot trial. SETTINGS Outpatient health clinic. SUBJECTS AND INTERVENTIONS Twenty IwPD (13M, 7F; 67.4 ± 6.1 years) were randomly assigned to BS (n = 10) or usual care (n = 10). The dance program consisted of two sessions/week, 90-min/class, for 12 weeks. OUTCOME MEASURES Motor and nonmotor symptoms, as well as functional performance, were evaluated using different questionnaires and tests such as the Unified Parkinson's Disease Rating Scale Part-III (UPDRS-III), 6-min walking test (6MWT), Berg Balance Scale (BBS), Timed Up-and-Go (TUG) test, Five Times Sit-to-Stand Test (FTSST), Back Scratch Test (BST), Sit-and-Reach Test (SRT), instrumented gait analysis, Parkinson's Disease Fatigue Scale (PFS-16), Beck Depression Inventory, Starkstein Apathy Scale (SAS), and Montreal Cognitive Assessment (MOCA) scale. RESULTS Repeated-measures analysis of variance revealed significant Time × Group interactions for UPDRS-III and functional variables such as the 6MWT, BBS, FTSST, TUG (all, p < 0.001), BST (p = 0.04), and gait analysis parameters (stride length, p = 0.031; gait speed, p = 0.049; and gait fatigue index (GFI), p = 0.005). For nonmotor symptoms, significant Time × Group interactions for depression (p < 0.001), apathy (p = 0.016), and MOCA scores (p = 0.012) were observed. Of note, for GFI and SAS, the BS group only showed a trend toward improvement, while the condition of the controls worsened significantly. No between-group differences were observed for SRT and PFS-16. CONCLUSIONS BS is an enjoyable activity, which has been proved to be superior to usual care alone in inducing changes in different motor and nonmotor symptoms associated with PD. Results show that BS can be considered a safe tool for contrasting impairments observed in IwPD due to the intrinsic nature of the neurodegenerative disease.
Introduction: Sensory trick is a specific maneuver that temporarily improves dystonia that is usu... more Introduction: Sensory trick is a specific maneuver that temporarily improves dystonia that is usually observed in 44% to 89% of patients with cranial-cervical dystonia and in 20% of patients with upper limb dystonia. This study aimed to assess the prevalence of sensory trick in a cohort of 37 patients with idiopathic adult-onset upper limb dystonia and to determine whether sensory trick can be a useful tool to distinguish dystonic and non-dystonic tremor. Methods: Thirty-seven right-handed patients with idiopathic upper limb dystonia and disturbed handwriting and 19 patients with non-dystonic action tremor in the upper limb causing writing disturbances participated into the study. Patients were asked to write a standard sentence twice, before and after applying a standardized sensory trick (gently grabbing right wrist with his left hand). Readability of the two sentences was assessed by three observers blinded to diagnosis. Results: Five/37 patients (13%) self-discovered ST over disease history, while performing the standardized trick maneuver improved handwriting in 14/37 patients (38%). Interobserver agreement on the effectiveness of sensory trick among the three observers yielded a kappa value of 0.86 (p<0.0001). The standardized trick was effective in 8/19 patients with dystonic tremor (42%) and in 0/19 patients with non-dystonic tremor (p=0.003). Conclusion: The results of applying a standardized non-spontaneous trick demonstrated that, in upper limb dystonia, ST may be more frequent than usually observed. Effective sensory trick, when present, may be a hallmark of idiopathic dystonia. The lack of effective sensory trick may help to identify non dystonic upper limb tremor.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, Jan 29, 2018
Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, ... more Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia. A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations. The recommendations retained patterned and repetitive movements/postures as the core feature of...
Journal of the peripheral nervous system : JPNS, Jan 16, 2016
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare auto... more We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin gene (GSN) sequencing revealed the heterozygous c.640G>A mutation (p.Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients comes from Finland, although several cases have been reported from other countries. HGA should be considere...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015
We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysi... more We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysing clinical, neuropsychological and imaging characteristics of various members from a large Sardinian kindred with FTD or ALS. We compared these with those of C9 + patients in our ALS and FTD cohorts. Results showed that three patients carried the C9orf72 mutation: two with ALS and one with FTD and Parkinsonism. C9 + patients in our bvFTD Sardinian cohort had a higher frequency of Parkinsonism than non-mutated patients (75% vs. 36.3%, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.02). Parkinsonism was present in 2.7% of our ALS cohort and 3.3% of the C9 + patients. The prevalence of Parkinsonism in C9 + patients in the bvFTD and ALS cohorts showed a statistically significant difference (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.006). In conclusion, Parkinsonism was frequently associated with FTD but not ALS in a large Sardinian family, a finding reflected in the wider C9orf72 associated Sardinian ALS and FTD populations.
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