Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain

Extended release levodopa at bedtime as a treatment for nocturiain Parkinson's disease: An open label study

Bladder dysfunction may cause disabling symptoms in Parkinson's disease (PD) patients. The majority patients' experience symptoms as urinary urgency and nocturia suggest overactive bladder. This seems to be due to an altered brain-bladder relationship because of alteration in fronto-basal ganglia D1-dopaminergic circuit that normally suppresses micturition-reflex. Previous studies demonstrated beneficial effect of D1/D2 dopamine-receptors chronic-stimulation on detrusor overactivity of PD-patients.The present study was aimed to evaluate possible effect of extended-release (ER) Levodopa administered at bed-time on both nocturia and nocturia-related quality-of-life (NQoL) in PD-patients

Sudden onset, fixed dystonia and acute peripheral trauma as diagnostic clues for functional dystonia

Background The differentiation of functional dystonia from idiopathic dystonia may be clinically challenging. Objective To identify clinical features suggestive of functional dystonia to guide physicians to distinguish functional dystonia from idiopathic dystonia. Methods Patient data were extracted from the Italian Registry of Functional Motor Disorders and the Italian Registry of Adult Dystonia. Patients with functional and idiopathic dystonia were followed up at the same clinical sites, and they were similar in age and sex. Results We identified 113 patients with functional dystonia and 125 with idiopathic dystonia. Sudden onset of dystonia, evidence of fixed dystonia, and acute peripheral trauma before dystonia onset were more frequent in the functional dystonia group. No study variable alone achieved satisfactory sensitivity and specificity, whereas a combination of variables yielded 85% sensitivity and 98% specificity. A diagnostic algorithm was developed to reduce the risk of misclassifying functional dystonia. Conclusion Our findings extend the current diagnostic approach to functional dystonia by showing that clinical information about symptom onset, fixed dystonia, and history of peripheral trauma may provide key clues in the diagnosis of functional dystonia

Frequency and clinical features of GBA mutations in Italian patients with Parkinson disease

Biallelic mutations in the Glucocerebrosidase gene (GBA) cause autosomal recessive Gaucher Disease. More recently, heterozygous rare variants of GBA have been consistently associated with increased risk to develop Parkinson Disease (PD) and Lewy Body Dementia (LBD). All exons and exon/intron boundaries of GBA gene were sequenced in familial and sporadic patients with early onset parkinsonism (EOP, 130), PD (408) and LBD (70) from Central-Southern Italy. GBA mutations were detected in 71/608 probands (11,68%; 27 EOP, 39 PD and 5 LBD), all but five in heterozygous state. Among homozygous patients (2 EOP, 1 PD and 1 LBD), none had features of Gaucher features. Overall, 27 distinct mutations were identified. The two recurrent mutations L444P and N370S overall accounted only for less than 40% of mutated cases (15/71, 21%, and 13/71, 18% respectively). A third mutation, E326K, was also common (10/71, 14%), while three mutations (p.G232R, p.C381F and p.M400Lfs*2) were novel. No specific genotype-phenotype correlations emerged. Frequencies of mutation carriers were 7,1% among LBD, 9,6% among PD and up to 20,8% among EOP patients. In fact, 38% of GBA mutation carriers had a diagnosis of EOP. Among PD and EOP patients, non-motor signs, such as cognitive impairment, psychiatric and autonomic dysfunctions were more frequently reported in mutated than not mutated cases, although this difference did not reach statistical significance. GBA mutations were significantly more frequent in patients with positive family history (15,9%) than sporadic cases (9%). About half mutated cases (34/71) originated from Campania, while the others came mostly from Lazio, Abruzzo and Sicily. These findings suggest that sequencing of the whole GBA gene should be considered in patients with PD, LBD and especially EOP if other monogenic forms have been excluded, even more in case of positive family history and if coming from high prevalence regions such as Campania

Oromandibular dystonia: from onset to spread a multicenter italian study

BackgroundDetailed information about the epidemiological and phenomenological differences among the aetiological subtypes of oromandibular dystonia (OMD) is lacking. Moreover, the OMD tendency to spread to other body sites has never been investigated.AimTo compare the main demographic and clinical features of OMD in different aetiological groups and assess the risk of spread.Materials and methodsWe retrospectively analysed data from patients contained in the Italian Dystonia Registry. The risk of spread was assessed by Kaplan Meyer curves and Cox regression analysis.ResultsThe study included 273 patients (175 women) aged 55.7 years (SD 12.7) at OMD onset. Female predominance was observed. Idiopathic dystonia was diagnosed in 241 patients, acquired dystonia in 22. In 50/273 patients, dystonia started in the oromandibular region (focal OMD onset); in 96/273 patients the onset involved the oromandibular region and a neighbouring body site (segmental/multifocal OMD onset); and in 127/273 patients OMD was a site of spread from another body region. Sensory trick (ST) and positive family history predominated in the idiopathic group. No dystonia spread was detected in the acquired group, whereas spread mostly occurred within the first five years of history in 34% of the focal OMD onset idiopathic patients. Cox regression analysis revealed ST as a significant predictor of spread (HR, 12.1; 95% CI, 2.5 - 18.8; P = 0.002).ConclusionThis large study provides novel information about the clinical phenomenology of idiopathic and acquired OMD. We pointed out a possible role of oestrogens in favouring dystonia development. Moreover, we described for the first time the association between ST and dystonia spread, revealing possible common pathophysiological mechanisms. Our findings may be suggested as a referral point for future pathophysiological and therapeutic studies on OMD

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD

Idiopathic Non-task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia

The objective of this study was to describe the clinical and demographic features of idiopathic non-task-specific upper limb dystonia compared with the task-specific form

Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin

The diagnostic framework and the therapeutic management of patients with adult dystonia can represent a challenge for clinical neurologists. The objective of the present paper is to delineate diagnostic and therapeutic recommendations for dystonia provided by a panel of Italian experts afferent to the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin. We first discuss the clinical approach and the instrumental assessment useful for diagnostic purpose. Then, we analyze the pharmacological, surgical, and rehabilitative therapeutic options for adult dystonia. Finally, we propose a hospital-territory network model for adult dystonia management

Botulinum toxin for the management of spasticity in multiple sclerosis: the Italian botulinum toxin network study

Botulinum toxin (BT) is an effective and safe treatment for spasticity, with limited evidence in multiple sclerosis (MS). We aim to describe the use of BT for the management of MS spasticity in the clinical practice, its combination with other anti-spastic treatments in MS and possible MS clinical correlates