Non-motor symptoms in PD evaluated during pharmacological ON state by a new tool: The NoMoS-ON scale. Is always the "ON" state beneficial?

OBJECTIVES: To evaluate non-motor symptoms (NMS) occurring during ON pharmacological state and validate a new questionnaire, the Non-motor symptoms-ON scale (NoMoS-ON), exploring ON NMS in Parkinson's disease (PD). MATERIAL AND METHODS: Patients with PD were evaluated by a new questionnaire, the NoMoS-ON scale, evaluating 17 items related to the main symptoms experienced during the ON state. PD patients who experienced at least one symptom in ON were defined ON-NMS+. Internal consistency and test-retest reliability of NoMoS-ON scale were also assessed. RESULTS: One-hundred and thirty-seven PD patients were consecutively enrolled (79 men and 58 women, age 69.4 ± 9.5 years (mean ± SD)). Seventy-seven patients were ON-NMS+ (56.6 %). PD patients with short disease duration (<7 years) showed the presence of unpleasant NMS: "sleepiness", "light-headedness", "nausea/vomiting". PD patients with longer disease duration experienced pleasant non-motor features including "feel lot of energy", "feel physical well-being". ON-NMS+ were also associated with female gender (OR 2.81, 95%CI 1.37-5.77, p-value 0.005) and with motor fluctuations (OR 2.41, 95%CI 1.20-4.83, p-value 0.013). Cronbach's alpha was 0.61 and 5 items had adequate item-to-total correlations (r ≥ 0.40). Test-retest reliability was acceptable (intraclass correlation coefficient, ICC = 0.77). CONCLUSIONS: The NoMoS-ON scale is a valid, reproducible and reliable questionnaire capturing the ON NMS in PD. PD patients with disease duration shorter than 7 years showed the presence of unpleasant NMS whereas those with longer disease duration experienced pleasant non-motor features. This could help the physician in the therapy management of PD patients in different phases of their disease.

Hyperkinetic movement disorders in congenital disorders of glycosylation.

BACKGROUND AND PURPOSE: Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes. METHODS: Subjects were identified from a cohort of patients with CDG who were referred to the University Hospital of Catania, Italy. Patients were evaluated by neurologists with expertise in movement disorders and videotaped using a standardized protocol. RESULTS: A variety of hyperkinetic movement disorders was detected in eight unrelated CDG patients. Involuntary movements were generally observed early in childhood, maintaining a clinical stability over time. Distribution ranged from a generalized, especially in younger subjects, to a segmental/multifocal involvement. In patients with phosphomannomutase 2 CDG, the principal movement disorders included dystonia and choreo-athetosis. In patients affected by other CDG types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies. CONCLUSIONS: Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood-onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.

Blink reflex recovery cycle to differentiate progressive supranuclear palsy from corticobasal syndrome.

BACKGROUND AND PURPOSE: Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) may share similar clinical findings and tests to distinguish between the two disorders could be useful. We evaluated the blink reflex and R2 blink reflex recovery cycle (R2BRRC), determining diagnostic sensitivity, specificity and positive and negative predictive value of R2BRRC in differentiating patients with PSP from those with CBS. METHODS: This was a prospective data collection study investigating blink reflex and R2BRRC at interstimulus intervals (ISIs) of 100, 150, 200, 300, 400, 500 and 750 ms in 12 patients with PSP, eight patients with CBS and 10 controls. RESULTS: Patients with PSP have earlier recruitment of R2BRRC as compared with patients with CBS (ISI: 100 ms, P = 0.002; 150 ms, P < 0.001; 200 ms, P < 0.001; 300 ms, P = 0.02) and controls (ISI: 100 ms, P < 0.001; 150 ms, P < 0.001; 200 ms, P < 0.001; 300 ms, P = 0.004). The presence of an early recovery of the R2 differentiated PSP from CBS with a specificity and sensitivity of 87.5% and 91.7%, respectively. CONCLUSIONS: The R2BRRC curve might be considered to be a useful tool in differentiating patients with PSP from those with CBS.

Gender effect on non-motor symptoms in Parkinson's disease: are men more at risk?

INTRODUCTION: Several gender differences have been reported in Parkinson's Disease (PD). We evaluated the burden of non-motor symptoms (NMS) in PD and the possible gender differences in their occurrence. METHODS: The FRAGAMP study is a large multicenter case-control study. PD patients and controls underwent a face-to-face interview and a neurological examination performed by trained neurologists. Presence of NMS was investigated using a standardized questionnaire; cognitive impairment and depression were assessed using the Mini Mental State Examination and the Hamilton Depression Rating Scale respectively. RESULTS: 585 PD patients (59.5% men) and 481 controls (34.9% men) were enrolled in the study. All NMS were significantly more frequent among PD patients than controls. PD women showed a significantly higher frequency of depression and urinary disturbances than parkinsonian men; a close frequency among PD women and men was recorded for hallucination, cognitive impairment and sleep disorders. Nonetheless, with respect to the control population, according to logistic regression stratified by sex and adjusted by age, PD men showed a stronger positive significant association with almost all NMS compared to women, excepting for urinary disturbances. The strongest association among PD men was recorded for cognitive impairment (adjusted OR 5.44 for men and 2.82 for women) and depression (adjusted OR 30.88 for men and 12.72 for women). CONCLUSIONS: With respect to the general population, presence of NMS was stronger associated with male gender. Our data suggest that the presence of NMS among PD men is more strictly due to the neurodegenerative processes related to PD.

Obsessive compulsive personality disorder in Progressive Supranuclear Palsy, Multiple System Atrophy and Essential Tremor.

INTRODUCTION: aim of the study was to evaluate the presence of the Obsessive Compulsive Personality Disorder (OCPeD) in Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and Essential Tremor (ET) and in a group of healthy subjects. METHODS: patients affected by MSA, PSP and ET diagnosed according to currently accepted diagnostic criteria and a group of healthy controls were enrolled in the study. Patients with cognitive impairment were excluded from the study. The Structured Clinical Interview for Personality Disorders-II (SCID-II) has been performed to evaluate the presence of personality disorders (PeDs). The diagnosis of OCPeD was confirmed by a psychiatric interview. RESULTS: fifteen MSA patients (8 men and 7 women; aged 62.9 ± 7.6 years), 14 PSP patients (8 men and 6 women; aged 69.8 ± 4.4 years), 16 ET patients (10 men and 6 women; aged 70.4 ± 6.4 years) and 20 healthy subjects (10 men and 10 women; aged 65.5 ± 6.0 years) were enrolled. OCPeD was recorded in 5 (35.7%) PSP patients, 2 (13.3%) MSA patients, 2 (12.5%) ET patient and 2 (10%) controls. CONCLUSION: a low frequency of OCPeD, close to those recorded in healthy subjects, was recorded in both MSA and ET patients. Conversely an higher frequency of OCPeD, similar to PD was found among PSP patients, supporting the possibility of an impairment of common basal ganglia network possibly involving the orbito-frontal circuits.

Validation of the UPDRS section IV for detection of motor fluctuations in Parkinson's disease.

INTRODUCTION: The UPDRS-IV represents the most common screening tool to assess motor fluctuations in patients with PD despite the lack of a clinimetric validation. OBJECTIVES: We evaluated sensitivity and specificity of UPDRS-IV using a 12-h waking-day motor assessment as the gold standard. METHODS: We consecutively enrolled PD patients who underwent a 12-h waking-day motor assessment in the study. Patients were clinically evaluated every 2 h for 12 h using the UPDRS-III. Motor scores were reported as a line graph and six blinded raters classified patients as having or not having motor fluctuations. The UPDRS-IV was used in order to assess the presence of predictable and unpredictable motor fluctuations according to items 36-38. RESULTS: Sixty two PD patients were enrolled in the study. According to the raters' evaluations, 39 (62.9%) were classified as having motor fluctuations, while according to the UPDRS-IV 47 (75.8%) presented a motor fluctuation giving a sensitivity of 87.2% (95%CI 72.6-95.7) and a specificity of 43.5% (95%CI 23.2-65.5). CONCLUSION: Our study results confirm the high level of sensitivity with a lower level of specificity of UPDRS-IV to screen motor fluctuations in PD patients.

The epidemiology of amyotrophic lateral sclerosis in the Mount Etna region: a possible pathogenic role of volcanogenic metals.

BACKGROUND AND PURPOSE: Trace elements (TEs) may play a role in the pathogenesis of amyotrophic lateral sclerosis (ALS) and volcanic degassing is the major natural source of TEs. Mount Etna, in the province of Catania, is the largest active volcano in Europe. Our aim was to assess the incidence of ALS in the province of Catania during 2005-2010 and its spatial distribution with respect to volcanic gas deposition. METHODS: Cases from all neurological centres of the province of Catania and of the boundary provinces were retrospectively collected. Patients who had onset during 2005-2010 and fulfilled the El Escorial revised diagnostic criteria were included. The incidence of ALS was estimated for the entire province and separately for the population living on the eastern and western flank of Mount Etna, respectively, the most and least exposed areas to volcanogenic TEs, considered as a possible risk factor for ALS. RESULTS: One hundred and twenty-six (57 men) ALS patients were enrolled. The mean annual crude incidence rate was 2.0/100 000 person-years (95% confidence interval 1.7-2.4). A higher incidence rate was found in the population living on the eastern flank compared to the western flank (2.4/100 000 and 0.9/100 000 respectively) with a relative risk of 2.75 (95% confidence interval 1.64-4.89; P < 0.001). CONCLUSIONS: The incidence of ALS in the province of Catania is close to those reported worldwide. The incidence was higher amongst the population living on the eastern flank of Mount Etna, which could be interpreted as a possible role of volcanogenic TEs. Further research on TEs and genetic factors is necessary to support this assumption.

Looks can be deceiving: three cases of neurological diseases mimicking Guillain-Barrè syndrome.

Guillain-Barrè syndrome (GBS) is an acute, paralyzing, inflammatory peripheral nerve disease, featured by monophasic disease course, symmetrical limb weakness and areflexia. Several pathologies can mimic the clinical presentation of GBS, making hard the differential diagnosis for patients complaining of acute flaccid paralysis. In this paper we describe three cases of different neurological diseases presenting with acute motor symptoms mimicking GBS, reviewing the relevant literature on misdiagnosis of GBS.

[(123) I]FP-CIT-SPECT asymmetry index to differentiate Parkinson's disease from vascular parkinsonism.

OBJECTIVES: Differential diagnosis between vascular parkinsonism (VP) and Parkinson's Disease (PD) is often difficult, due to the overlap in clinical presentation and the lack of specificity at neuroimaging. Aim of the study was to identify a possible reliable marker at SPECT imaging useful to distinguish the two conditions. MATERIAL AND METHODS: We studied 20 PD, 20 VP and 20 essential tremor (ET) patients as control group, who had undergone a cerebral [(123) I] FP-CIT SPECT. A semiquantitative analysis was performed on DaTSCAN SPECT imaging and to establish the degree of asymmetry of the ligand uptake the Striatal Asymmetry Index (SAI) was used. RESULTS: The binding of the ligand in the most affected side resulted significantly lower in VP than in ET patients but higher compared to PD patients. SAI was significantly higher in PD compared to VP (P < 0.001) and ET (P < 0.001) groups. We found that a cut-off of SAI greater than 14.08 could differentiate PD from VP with a 100% specificity and a 50% sensitivity. CONCLUSIONS: SAI detected using [(123) I]FP-CIT SPECT can be used to differentiate VP and PD with a good degree of certainty.