scholarly journals Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

2021 ◽  
Author(s):  
V. Montano ◽  
D. Orsucci ◽  
V. Carelli ◽  
C. La Morgia ◽  
M. L. Valentino ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Movement Disorders ◽  
Cerebellar Atrophy ◽  
Mitochondrial Diseases ◽  
Daily Practice ◽  
Clinical Genetic ◽  
Mitochondrial Movement ◽  
Neurophysiological Data ◽  
Diagnostic Flowchart

Abstract Introduction Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. Methods Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients with primary mitochondrial diseases (n = 764) where ataxia, myoclonus or other movement disorders were part of the clinical phenotype. Results Ataxia, myoclonus and movement disorders were present in 105/764 adults (13.7%), with the onset coinciding or preceding the diagnosis of the mitochondrial disease in 49/105 (46.7%). Ataxia and parkinsonism were the most represented, with an overall prevalence at last follow-up of 59.1% and 30.5%, respectively. Hyperkinetic movement disorders were reported in 15.3% at last follow-up, being the less common reported movement disorders. The pathogenic m.8344A > G and POLG variants were always associated with a movement disorder, while LHON variants and mtDNA single deletions were more commonly found in the subjects who did not present a movement disorder. The most common neuroimaging features were cortical and/or cerebellar atrophy, white matter hyperintensities, basal ganglia abnormalities and nigro-striatal degeneration. Almost 70% of patients with parkinsonism responded to dopaminergic therapy, mainly levodopa, and 50% with myoclonus were successfully treated with levetiracetam. Conclusion Movement disorders, mainly ataxia and parkinsonism, are important findings in adult primary mitochondrial diseases. This study underlies the importance of looking for a mitochondrial etiology in the diagnostic flowchart of a movement disorder and may help direct genetic screening in daily practice.

scholarly journals Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

2021 ◽  
Vol 10 (10) ◽  
pp. 2063
Author(s):  
Chiara Ticci ◽  
Daniele Orsucci ◽  
Anna Ardissone ◽  
Luca Bello ◽  
Enrico Bertini ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Movement Disorder ◽  
Movement Disorders ◽  
Age At Onset ◽  
Cerebellar Atrophy ◽  
Mitochondrial Diseases ◽  
Fine Tuning ◽  
Cerebral White Matter ◽  
Collaborative Network ◽  
Childhood Onset

Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.

Gamma knife radiosurgery as a lesioning technique in movement disorder surgery

1997 ◽  
Vol 2 (3) ◽  
pp. E13 ◽  
Author(s):  
Ronald F. Young ◽  
Anne Shumway-Cook ◽  
Sandra S. Vermeulen ◽  
Peter Grimm ◽  
John Blasko ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Movement Disorder ◽  
Gamma Knife ◽  
Movement Disorders ◽  
Rating Scale ◽  
Gamma Knife Radiosurgery ◽  
Magnetic Resonance Images ◽  
Maximum Deviation

Fifty-five patients underwent radiosurgical placement of lesions either in the thalamus (27 patients) or globus pallidus (28 patients) for treatment of movement disorders. Patients were evaluated pre- and postoperatively by a team of observers skilled in the assessment of gait and movement disorders who were blinded to the procedure performed. They were not associated with the surgical team and concomitantly and blindly also assessed a group of 11 control patients with Parkinson's disease who did not undergo any surgical procedures. All stereotactic lesions were made with the Leksell gamma unit using the 4-mm secondary collimator helmet and a single isocenter with dose maximums from 120 to 160 Gy. Clinical follow-up evaluation indicated that 88% of patients who underwent thalamotomy became tremor free or nearly tremor free. Statistically significant improvements in performance were noted in the independent assessments of Unified Parkinson's Disease Rating Scale (UPDRS) scores in the patients undergoing thalamotomy. Eighty-five and seven-tenths percent of patients undergoing pallidotomy who had exhibited levodopa-induced dyskinesias had total or near-total relief of that symptom. Clinical assessment indicated improvement of bradykinesia and rigidity in 64.3% of patients who underwent pallidotomy. Independent blinded assessments did not reveal statistically significant improvements in Hoehn and Yahr scores or UPDRS scores. On the other hand, 64.7% of patients showed improvements in subscores of the UPDRS, including activities of daily living (58%), total contralateral score (58%), and contralateral motor scores (47%). Ipsilateral total UPDRS and ipsilateral motor scores were both improved in 59% of patients. One (1.8%) of 55 patients experienced a homonymous hemianopsia 9 months after pallidotomy due to an unexpectedly large lesion. No other complications of any kind were seen. Follow-up neuroimaging confirmed correct lesion location in all patients, with a mean maximum deviation from the planned target of 1 mm in the vertical axis. Measurements of lesions at regular interals on postoperative magnetic resonance images demonstrated considerable variability in lesion volumes. The safety and efficacy of functional lesions made with the gamma knife appear to be similar to those made with the assistance of electrophysiological guidance with open functional stereotactic procedures. Functional lesions may be made safely and accurately using gamma knife radiosurgical techniques. The efficacy is equivalent to that reported for open techniques that use radiofrequency lesioning methods with electrophysiological guidance. Complications are very infrequent with the radiosurgical method. The use of functional radiosurgical lesioning to treat movement disorders is particularly attractive in older patients and those with major systemic diseases or coagulopathies; its use in the general movement disorder population seems reasonable as well.

Gamma knife radiosurgery as a lesioning technique in movement disorder surgery

1998 ◽  
Vol 89 (2) ◽  
pp. 183-193 ◽  
Author(s):  
Ronald F. Young ◽  
Anne Shumway-Cook ◽  
Sandra S. Vermeulen ◽  
Peter Grimm ◽  
John Blasko ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Movement Disorder ◽  
Gamma Knife ◽  
Movement Disorders ◽  
Gamma Knife Radiosurgery ◽  
Safety And Efficacy ◽  
Content Type ◽  
Fine Print

Object. To increase knowledge of the safety and efficacy of the use of gamma knife radiosurgery in patients with movement disorders, the authors describe their own experience in this field and include blinded independent assessments of their results. Methods. Fifty-five patients underwent radiosurgical placement of lesions either in the thalamus (27 patients) or globus pallidus (28 patients) for treatment of movement disorders. Patients were evaluated pre- and postoperatively by a team of observers skilled in the assessment of gait and movement disorders who were blinded to the procedure performed. The observers were not associated with the surgical team and concomitantly and blindly also assessed a group of 11 control patients with Parkinson's disease who did not undergo any surgical procedures. All stereotactic lesions were made with the Leksell gamma unit using the 4-mm secondary collimator helmet and a single isocenter with maximum doses from 120 to 160 Gy. Clinical follow-up evaluation indicated that 88% of patients who underwent thalamotomy became tremor free or nearly tremor free. Statistically significant improvements in performance were noted in the independent assessments of Unified Parkinson's Disease Rating Scale (UPDRS) scores in the patients undergoing thalamotomy. Of patients undergoing pallidotomy who had exhibited levodopainduced dyskinesias, 85.7% had total or near-total relief of that symptom. Clinical assessment indicated improvements in bradykinesia and rigidity in 64.3% of patients who underwent pallidotomy. Independent blinded assessments did not reveal statistically significant improvements in Hoehn and Yahr scores or UPDRS scores. On the other hand, 64.7% of patients showed improvements in subscores of the UPDRS, including activities of daily living (58%), total contralateral score (58%), and contralateral motor scores (47%). Total ipsilateral score and ipsilateral motor scores were both improved in 59% of patients. One (1.8%) of 55 patients experienced a homonymous hemianopsia 9 months after pallidotomy due to an unexpectedly large lesion. No other complications of any kind were seen. Neuropsychological test scores that were obtained for the combined pallidotomy and thalamotomy treatment groups preoperatively and at 6 months postoperatively demonstrated an absence of cognitive morbidity. Follow-up neuroimaging confirmed correct lesion location in all patients, with a mean maximum deviation from the planned target of 1 mm in the vertical axis. Measurements of lesions at regular intervals on postoperative magnetic resonance images demonstrated considerable variability in lesion volumes. The safety and efficacy of functional lesions made with the gamma knife appear to be similar to those made with the assistance of electrophysiological guidance with open functional stereotactic procedures. Conclusions. Functional lesions may be made safely and accurately using gamma knife radiosurgical techniques. The efficacy is equivalent to that reported for open techniques that use radiofrequency lesioning methods with electrophysiological guidance. Complications are very infrequent with the radiosurgical method. The use of functional radiosurgical lesioning to treat movement disorders is particularly attractive in older patients and in those with major systemic diseases or coagulopathies; its use in the general movement disorder population seems reasonable as well.

scholarly journals Movement disorders in early MS and related diseases

2018 ◽  
Vol 9 (1) ◽  
pp. 24-31
Author(s):  
Hesham Abboud ◽  
Xin Xin Yu ◽  
Konrad Knusel ◽  
Hubert H. Fernandez ◽  
Jeffrey A. Cohen
Keyword(s):  
Movement Disorder ◽  
Movement Disorders ◽  
Clinical Characteristics ◽  
Eligible Patient ◽  
Demyelinating Diseases ◽  
Start Date ◽  
True Prevalence ◽  
A Prospective Study ◽  
Tonic Spasms

BackgroundLittle is known about the true prevalence and clinical characteristics of movement disorders in early multiple sclerosis (MS) and related demyelinating diseases. We conducted a prospective study to fill this knowledge gap.MethodsA consecutive patient sample was recruited from the MS clinic within a 1-year-period. Patients diagnosed over 5 years before the study start date were excluded. Each eligible patient was interviewed by a movement disorder neurologist who conducted a standardized movement disorder survey and a focused examination. Each patient was followed prospectively for 1–4 follow-up visits. Movement disorders identified on examination were video-recorded and videos were independently rated by a separate blinded movement expert.ResultsSixty patients were included (56.6% female, mean age 38.3 ± 12.7 years). Eighty percent reported one or more movement disorders on the survey and 38.3% had positive findings on examination. After excluding incidental movement disorders (e.g., essential tremor), 58.3% were thought to have demyelination-related movement disorders. The most common movement disorders in a descending order were restless legs syndrome, tremor, tonic spasms, myoclonus, focal dystonia, spontaneous clonus, fasciculations, pseudoathetosis, hyperekplexia, and hemifacial spasm. The movement disorder started 5 months following a relapse on average but in 8 patients it was the presenting symptom of a new relapse or the disease itself. The majority of movement disorders occurred secondary to spinal (85.7%) or cerebellar/brainstem lesions (34.2%). Spinal cord demyelination was the only statistically significant predictor of demyelination-related movement disorders.ConclusionMovement disorders are more common than previously thought even in early MS. They typically begin a few months after spinal or brainstem/cerebellar relapses but may occasionally be the presenting symptom of a relapse.

scholarly journals Saskatchewan Movement Disorders Program

2015 ◽  
Vol 42 (2) ◽  
pp. 74-87 ◽  
Author(s):  
Ali H. Rajput ◽  
Alex Rajput
Keyword(s):  
United States ◽  
Clinical Practice ◽  
Patient Care ◽  
Movement Disorder ◽  
Movement Disorders ◽  
The United States ◽  
Clinic Visit ◽  
Formalin Fixed

AbstractWe review the Saskatchewan Movement Disorders Program, which started in 1968 and has had the dual goals of patient care and research. The clinics are structured to collect research-worthy data including videos, longitudinal follow-up, and autopsy studies of patients seen in the clinics. At every clinic visit, the patient is evaluated by one or both authors. A total of 25% to 30% of the deceased come to autopsy. Frozen half-brain and formalin-fixed remnants from autopsy are preserved in our laboratories. Patients not seen in our clinic are not included in research, which makes it different from brain banks. So far, 515 cases have come to autopsy. So far, there have been 17 collaborating scientific teams from Canada, the United States, Europe, and Japan. The collaborators are not charged for access to our resources. This program offers a unique opportunity to study multiple aspects of movement disorder patients seen in clinical practice.

Treatment of varicose tributaries with sclerotherapy with polidocanol 0.5 % foam

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Reich-Schupke ◽  
Weyer ◽  
Altmeyer ◽  
Stücker
Keyword(s):  
Scientific Evidence ◽  
Daily Practice ◽  
Severe Adverse Effect ◽  
Safe Procedure ◽  
Efficacy And Safety ◽  
Foam Sclerotherapy ◽  
History Of ◽  
One Year ◽  
Additional Therapy

Background: Although foam sclerotherapy of varicose tributaries is common in daily practice, scientific evidence for the optimal sclerosant-concentration and session-frequency is still low. This study aimed to increase the knowledge on foam sclerotherapy of varicose tributaries and to evaluate the efficacy and safety of foam sclerotherapy with 0.5 % polidocanol in tributaries with 3-6 mm in diameter. Patients and methods: Analysis of 110 legs in 76 patients. Injections were given every second or third day. A maximum of 1 injection / leg and a volume of 2ml / injection were administered per session. Controls were performed approximately 6 months and 12 months after the start of therapy. Results: 110 legs (CEAP C2-C4) were followed up for a period of 14.2 ± 4.2 months. Reflux was eliminated after 3.4 ± 2.7 injections per leg. Insufficient tributaries were detected in 23.2 % after 6.2 ± 0.9 months and in 48.2 % after 14.2 ± 4.2 months, respectively. Only 30.9 % (34 / 110) of the legs required additional therapy. In 6.4 % vein surgery was performed, in 24.5 % similar sclerotherapy was repeated. Significantly fewer sclerotherapy-sessions were required compared to the initial treatment (mean: 2.3 ± 1.4, p = 0.0054). During the whole study period thrombophlebitis (8.2 %), hyperpigmentation (14.5 %), induration in the treated region (9.1 %), pain in the treated leg (7.3 %) and migraine (0.9 %) occurred. One patient with a history of thrombosis developed thrombosis of a muscle vein (0.9 %). After one year there were just hyperpigmentation (8.2 %) and induration (1.8 %) left. No severe adverse effect occurred. Conclusions: Foam sclerotherapy with injections of 0.5 % polidocanol every 2nd or 3rd day, is a safe procedure for varicose tributaries. The evaluation of efficacy is difficult, as it can hardly be said whether the detected tributaries in the controls are recurrent veins or have recently developed in the follow-up period. The low number of retreated legs indicates a high efficacy and satisfaction of the patients.

A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice

2020 ◽  
Vol 16 ◽  
Author(s):  
Farhan Bajwa ◽  
Syed M Jafri ◽  
Karthik Ananthasubramaniam
Keyword(s):  
Surgical Procedures ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Daily Practice ◽  
Congenital Heart Diseases ◽  
Congenital Diseases ◽  
Adult Congenital ◽  
The Common ◽  
Adult Congenital Heart Diseases

: The advancement in corrective surgical procedures and anaesthesia technology has resulted in the increase survival of patients with Congenital Heart Diseases (CHD). Most of the surviving CHD patients have successfully reached adulthood and those surviving adults now outnumber the infants born with the CHD. Unfortunately, the surviving adults with CHD do not get proper care due to either inconsistent follow up or not getting care from a specialist in the field of CHD. It is imperative for general practicing clinicians to be aware of the congenital diseases as well as the current clinical recommendations. This manuscript reviews some of the common congenital diseases seen in adults such as cardiac shunts, left heat obstructive lesions and aortopathies.

Diagnostic Usage of Low Dose CT in Solitary Pulmonary Nodule Follow Up in Daily Practice

2017 ◽  
Vol 13 (4) ◽  
Author(s):  
Mehmet Ali Ikidag ◽  
Meral Uyar ◽  
Nevhiz Gundogdu ◽  
Mehmet Ali Cuce ◽  
Maruf Sanli ◽  
...  
Keyword(s):  
Pulmonary Nodule ◽  
Low Dose ◽  
Solitary Pulmonary Nodule ◽  
Daily Practice ◽  
Low Dose Ct

scholarly journals Neurological Evaluation of Patients with Newly Diagnosed Coeliac Disease Presenting to Gastroenterologists: A 7-Year Follow-Up Study

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1846
Author(s):  
Marios Hadjivassiliou ◽  
Iain D. Croall ◽  
Richard A. Grünewald ◽  
Nick Trott ◽  
David S. Sanders ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Brain Imaging ◽  
Cerebellar Atrophy ◽  
Neurological Dysfunction ◽  
Close Monitoring ◽  
Newly Diagnosed ◽  
Positive Serology ◽  
Original Cohort ◽  
Follow Up Study

We have previously shown that 67% of patients with newly diagnosed coeliac disease (CD) presenting to gastroenterologists have evidence of neurological dysfunction. This manifested with headache and loss of co-ordination. Furthermore 60% of these patients had abnormal brain imaging. In this follow-up study, we re-examined and re-scanned 30 patients from the original cohort of 100, seven years later. There was significant reduction in the prevalence of headaches (47% to 20%) but an increase in the prevalence of incoordination (27% to 47%). Although those patients with coordination problems at baseline reported improvement on the gluten free diet (GFD), there were 7 patients reporting incoordination not present at baseline. All 7 patients had positive serology for one or more gluten-sensitivity related antibodies at follow-up. In total, 50% of the whole follow-up cohort were positive for one or more gluten-related antibodies. A comparison between the baseline and follow-up brain imaging showed a greater rate of cerebellar grey matter atrophy in the antibody positive group compared to the antibody negative group. Patients with CD who do not adhere to a strict GFD and are serological positive are at risk of developing ataxia, and have a significantly higher rate of cerebellar atrophy when compared to patients with negative serology. This highlights the importance of regular review and close monitoring.

scholarly journals Insights on safety and efficacy of renal artery denervation for uncontrolled-resistant hypertension in a high risk population with chronic kidney disease: first Italian real-world experience

2021 ◽  
Author(s):  
Federico Marin ◽  
Simone Fezzi ◽  
Alessia Gambaro ◽  
Francesco Ederle ◽  
Gianluca Castaldi ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Therapy ◽  
Resistant Hypertension ◽  
Univariate Analysis ◽  
Daily Practice ◽  
Renal Sympathetic Denervation ◽  
High Risk Population ◽  
Safety And Efficacy ◽  
Renal Artery Denervation

Abstract Aims To evaluate the safety and efficacy of catheter-based radiofrequency renal sympathetic denervation (RSD) in a daily practice population of patients with uncontrolled resistant hypertension, on top of medical therapy. Methods Consecutive unselected patients with uncontrolled resistant hypertension undergoing RSD were enrolled. Office and ambulatory blood pressure (BP) measurements were collected at baseline and 3, 6 and 12 months after RSD. Efficacy was assessed even in patients with an estimated glomerular filtration rate (eGFR) below 45 mL/min/1.73 m2. Patients were defined as responders if systolic BP decreased by at least 5 mmHg at ambulatory BP or by 10 mmHg at office BP at their last follow-up visit. Results Forty patients with multiple comorbidities underwent RSD from 2012 to 2019. Baseline office and ambulatory BP was 159.0/84.9 ± 26.2/14.9 mmHg and 155.2/86.5 ± 20.9/14.0 mmHg, respectively. At 12-month follow up a significant reduction in office and ambulatory systolic BP, respectively by − 19.7 ± 27.1 mmHg and by − 13.9 ± 23.6 mmHg, was observed. BP reduction at 12-month follow-up among patients with eGFR < 45 mL/min was similar to that obtained in patients with higher eGFR. Twenty-nine patients (74.4%) were responders. Combined hypertension, higher ambulatory systolic BP and lower E/E’ at baseline emerged as predictors of successful RSD at univariate analysis. No major complications were observed and renal function (was stable up to 12 months), even in patients with the lowest eGFR values at baseline. Conclusion RSD is safe and feasible in patients with uncontrolled resistant hypertension on top of medical therapy, even in a high-risk CKD population with multiple comorbidities, with a significant reduction in systolic BP and a trend towards a reduction in diastolic BP lasting up to 12 months. Graphic abstract

Sign in / Sign up

Export Citation Format

Share Document