Validation of a guideline to reduce variability in diagnosing cervical dystonia

Background: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia. Methods: Participants were video recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3-6). Inter-/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. Results: The validation sample included 43 idiopathic cervical dystonia patients and 41 control subjects (12 normal subjects, 6 patients with isolated head tremor, 4 with chorea, 6 with tics, 4 with head ptosis due to myasthenia or amyotrophic lateral sclerosis, 7 with orthopedic/rheumatologic neck diseases, and 2 with ocular torticollis). The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). Conclusions: An accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia

Unbalanced metalloproteinase-9 and tissue inhibitors of metalloproteinases ratios predict hemorrhagic transformation of lesion in ischemic stroke patients treated with thrombolysis: Results from the MAGIC study

Background Experimentally, metalloproteinases (MMPs) play a detrimental role related to severity of ischemic brain lesions. Both MMPs activity and function in tissues reflect the balance between MMPs and tissue inhibitors of metalloproteinases (TIMPs). We aimed to evaluate the role of MMPs/TIMPs balance in the setting of rtPA treated stroke patients Methods Blood was taken before and 24-hours after rtPA from 327 patients (mean age 68 years, median NIHSS 11) with acute ischemic stroke. Delta median values of each MMP/TIMP ratio [(post rtPA MMP/TIMP-baseline MMP/TIMP)/(baseline MMP/TIMP)] were analyzed related to symptomatic intracranial hemorrhage (sICH) according to NINDS criteria, relevant hemorrhagic transformation (HT) defined as hemorrhagic infarction type 2 or any parenchimal hemorrhage, stroke subtypes (according to Oxfordshire Community Stroke Project) and 3-month death. The net effect of each MMP/TIMP ratio was estimated by a logistic regression model including major clinical determinants of outcomes Results Adjusting for major clinical determinants, only increase in MMP9/TIMP1 and MMP9/TIMP2 ratios remained significantly associated with sICH (odds ratio [95% confidence interval], 1.67 [1.17 – 2.38], p = 0.005; 1.74 [1.21 – 2.49], p=0.003 respectively). Only relative increase in MMP9/TIMP1 ratio proved significantly associated with relevant HT (odds ratio [95% confidence interval], 1.74 [1.17 – 2.57], p=0.006) with a trend towards significance for MMP9/TIMP2 ratio (p=0.007).Discussion Our data add substantial clinical evidence about the role of MMPs/TIMPs balance in rtPA treated stroke patients. These results may serve to generate hypotheses on MMPs inhibitors to be administered together with rtPA in order to counteract its deleterious effect

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

Cannabinoids and dystonia: an issue yet to be defined

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Besides motor manifestations, patients with dystonia also display non-motor signs and symptoms including psychiatric and sensory disturbances. Symptomatic treatment of motor signs in dystonia largely relies on intramuscular botulinum toxin injections and, in selected cases, on deep brain stimulation. Oral medications and physical therapy offer a few benefits only in a minority of patients. Cannabinoids have been shown to be a complementary treatment in several neurological disorders but their usefulness in dystonia have not been systematically assessed. Given recent policy changes in favor of cannabis use in clinical practice and the request for alternative treatments, it is important to understand how cannabinoids may impact people with dystonia. Reviewing the evidence so far available and our own experience, cannabinoids seem to be effective in single cases but further studies are required to improve our understanding on their role as complementary treatment in dystonia

Neurosifilide e stroke ischemico: case report.

Per neurosifilide si intende il coinvolgimento del sistema nervoso centrale da parte dell’infezione sifilitica causato dalla disseminazione del Treponema Pallidum all’interno del liquido cefalorachidiano, nelle meningi e nelle strutture vascolari circostanti. Le manifestazioni cliniche possono presentarsi in qualsiasi stadio della patologia e presentarsi come neurosifilide precoce asintomatica, meningite acuta, sifilide meningovascolare, neurosifilide paretica e tabe dorsale. Presentiamo il caso di un paziente di 46 anni, nato in Bangladesh, presentatosi per vertigini oggettive a carattere rotatorio insorte da un giorno. È stata eseguita TC cranio urgente risultata negativa per lesioni recenti e RM encefalo che ha evidenziato lesione ischemica recente in territorio di Posterior Inferior Cerebellar Artery (PICA) di destra. Si è proceduto quindi ad effettuare uno screening dei possibili fattori di rischio per Stroke ischemico giovanile: eccetto la nota ipertensione arteriosa, non si sono evidenziati altri fattori di rischio cardiovascolare nè trombofilia. Dopo un riscontro di Treponema Pallidum Haemagglutination Assay (TPHA) 1/640 e Venereal Disease Research Laboratory (VDRL) positivi su siero, si è effettuata rachicentesi con esame chimico-fisico proteine 100 mg/dl, cellule < 10/mmc e VDRL su liquor positivo che ha permesso di porre diagnosi di neurosifilide. A causa dell’importante barriera linguistica, non è stato possibile indagare con certezza possibili precedenti anamnestici ascrivibili a sifilide primaria. è stata esclusa la coesistenza di infezione da Human Immunodeficiency Virus (HIV) e impostata terapia con Benzatil penicillina. La neurosifilide è conosciuta come “il grande imitatore” o “il grande impostore” a causa della sua vasta gamma di sintomi clinici. I pazienti con sifilide meningovascolare possono presentare una sintomatologia del tutto sovrapponibile a quella di uno stroke ischemico dovuto ad aterosclerosi. La reale incidenza della neurosifilide rimane tuttora sconosciuta poiché la diagnosi è spesso misconosciuta ma secondo alcuni studi risulta più elevata in pazienti provenienti da alcune regioni dell’Asia (fino a 2/3 dei riscontri di neurosifilide tra i pazienti ricoverati per stroke o Transient Ischemic Attack: TIA). Nella pratica clinica è stato osservato un alto tasso di errore nella definizione eziologica di ictus ischemico in pazienti con neurosifilide che rappresentano il 4% dei pazienti ricoverati per stroke o TIA in cui non sia stata identificata altra causa, portando i pazienti a non ricevere il trattamento più appropriato, spesso con conseguenti danni neurologici secondari. La neurosifilide dovrebbe, quindi, sempre essere considerata in pazienti giovani che presentino ictus ischemico idiopatico, soprattutto quando provenienti da regioni a più alto tasso di incidenza

Upper limb movements in dementia with Lewy body: a quantitative analysis

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

Pisa-Like Syndrome Under Baclofen in a Patient With Spastic Hemiparesis due to Ischemic Stroke

In its original description, Pisa syndrome was reported as an iatrogenic dystonia of the trunk caused by neuroleptic drugs. However, sometimes, not dystonic lateral flexion of the trunk is described as Pisa syndrome. These observations support the possibility of a drug-induced lateral flexion of the trunk with clinical presentation similar to Pisa syndrome, although with a different etiology and pathophysiology. Here, we describe the case of a male patient, with a previous ischemic stroke and residual spastic hemiparesis to the right side, who subacutely developed a dramatic lateral flexion of trunk (approximately 45° to the right) a few days after the introduction of Baclofen (5 mg 3 times per day). After the discontinuation of baclofen, a full recovery of the correct posture was obtained. In this respect, our case is paradigmatic: it is drug-induced but not clearly dystonic in its manifestation. Baclofen reduces the spasticity depressing the monosinaptic and polisinaptic reflex in the spinal cord by stimulating Gamma-aminobutyric acid B (GABA-B) receptors, which inhibit the release of excitatory amino acids, glutamate and aspartate. We believe that the definition of Pisa syndrome for these forms, not clearly dystonic, might be not completely appropriate, but they should be defined more correctly as Pisa-like syndromes

Does Olfactory Dysfunction Correlate with Disease Progression in Parkinson’s Disease? A Systematic Review of the Current Literature

Background. Loss of olfaction is a well-established early feature of Parkinson’s disease (PD). Although olfactory dysfunction has been widely described as a prodromal feature of PD in the literature, whether it can be considered a biomarker of PD progression is still a matter of debate. Objective. The aim of this work is to define the possible relationship between the progression of olfactory dysfunction and other putative clinical hallmarks of PD over time, through a systematic review of the current literature. Methods. We conducted a systematic review of the literature on PubMed from inception to March 2022. We included only longitudinal studies conducted on patients with diagnosis of idiopathic PD who underwent olfactory function testing at baseline and repeated it at least once during follow-up. Results. Among 5740 records identified through database searching, nine longitudinal studies met full criteria and underwent data extraction. Conclusions. Olfaction seemed to decrease over time, albeit with a degree of fluctuation. Moreover, smell detection ability seems to deteriorate more rapidly in the early phase of disease, indicating a possible association with disease progression. More studies are needed to better understand the role of olfaction as a biomarker of PD progression over time

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

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