1,720,993 research outputs found
A review of adverse events linked to dopamine agonists in the treatment of Parkinson's disease.
No full textIntroduction: Dopamine agonists are highly effective as adjunctive therapy to levodopa in
advanced Parkinson's disease. These drugs have rapidly gained popularity as a monotherapy in the
early stages of Parkinson's disease for patients less than 65-70 years old since they are about as
effective as levodopa but patients demonstrate a lower tendency to develop motor complications.
However, dopamine agonists could have peripheral and central side-effects which are often the
reason for the discontinuation of the treatment. Areas covered: This article presents an overview of
the efficacy and the potential negative effects related to the use of dopamine agonists in the
treatment of Parkinson’s disease. Expert opinion: Beyond the new generation non ergot dopamine
agonists, no strong evidences allow the choice of a specific dopamine agonists for Parkinson 's
disease treatment and by now dopamine agonists treatment should be tailored on specific adverse
events profile
Diabetes is associated with postural and cognitive domains in Parkinson's disease. Results from a single-center study.
No full textno abstrac
Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome
No full textBackgroundMyoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use.Case presentationWe present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic-clonic seizures. To our knowledge, this is the first trial of Perampanel in MD.ConclusionsWe presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD
Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C
No full textAbstract Background Spastic Paraplegia type 7 (SPG7) is one of the most common autosomal recessive Hereditary Spastic Paraplegias (HSP); Spastic Paraplegias (SPGs) can present as hereditary ataxias. However, ataxia is frequently the symptom of presentation of many other hereditary/sporadic disorders, such as Multiple system atrophy type C (MSA-C), an α-synuclein sporadic neurodegenerative disorder, in which cerebellar ataxia is one of the main clinical features. Dopamine Transporter imaging (DAT-SCAN), associated with clinical features, can be a helpful tool in order to distinguish MSA-C from other causes of ataxia. Case-presentation We present the case of a 70-year-old man with gait difficulties over a period of 3 years and frequent backward/lateral falls. He also reported urinary urge incontinence, but no symptoms that are compatible with orthostatic hypotension. On neurological examination he showed ataxic gait, spasticity in the left lower limb and trunk and limb ataxia, especially on the left side. Mild hypokinesia was found in all 4 limbs, especially in the left foot. MRI revealed atrophy of the cerebellar hemispheres and vermis. DAT-SCAN imaging revealed bilateral nigro-striatal degeneration, which was compatible with a diagnosis of possible MSA-C. Considering the atypical disease course (the patient walked without any support after 3 years), we carried out a genetic investigation for Ataxia, and a mutation in SPG7 was found. Conclusions DAT-SCAN imaging, evaluated together with the clinical findings, can be useful for differentiating MSA from other possible causes of adult-onset Ataxia. Indeed, patients with MSA-C generally show a decreased uptake of dopamine transporters in DAT-SCAN imaging. Ours is the first case reported in the literature of a patient with SPG7 mutation with nigrostriatal degeneration and a clinical presentation of a possible MSA-C. Performing genetic investigations in patients with an atypical disease course is important to avoid MSA-mimicries. Identifying the correct diagnosis is important not only for prognostic reasons, but also for possible future genetic therapies
Fluid Candidate Biomarkers for Alzheimer's Disease: A Precision Medicine Approach
Full text linkA plethora of dynamic pathophysiological mechanisms underpins highly heterogeneous phenotypes in the field of dementia, particularly in Alzheimer's disease (AD). In such a faceted scenario, a biomarker-guided approach, through the implementation of specific fluid biomarkers individually reflecting distinct molecular pathways in the brain, may help establish a proper clinical diagnosis, even in its preclinical stages. Recently, ultrasensitive assays may detect different neurodegenerative mechanisms in blood earlier. ß-amyloid (Aß) peptides, phosphorylated-tau (p-tau), and neurofilament light chain (NFL) measured in blood are gaining momentum as candidate biomarkers for AD. P-tau is currently the more convincing plasma biomarker for the diagnostic workup of AD. The clinical role of plasma Aβ peptides should be better elucidated with further studies that also compare the accuracy of the different ultrasensitive techniques. Blood NFL is promising as a proxy of neurodegeneration process tout court. Protein misfolding amplification assays can accurately detect α-synuclein in cerebrospinal fluid (CSF), thus representing advancement in the pathologic stratification of AD. In CSF, neurogranin and YKL-40 are further candidate biomarkers tracking synaptic disruption and neuroinflammation, which are additional key pathophysiological pathways related to AD genesis. Advanced statistical analysis using clinical scores and biomarker data to bring together individuals with AD from large heterogeneous cohorts into consistent clusters may promote the discovery of pathophysiological causes and detection of tailored treatments
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Sleep modulation in Parkinson's Disease patients with Deep Brain Stimulation: the role of frequency variations
No full textLa stimolazione cerebrale profonda è un trattamento efficace sui sintomi motori e non motori nella malattia di Parkinson (MP). Il sonno, infatti può essere modificato da tale trattamento. Basse frequenze di stimolazione del nucleo subtalamico(NST) sono utilizzate per migliorare la marcia in pazienti con MP, per possibile coinvolgimento del nucleo peduncolo pontino(NPP). L’obiettivo del nostro lavoro era di esplorare il differente effetto sul sonno di stimolazione a bassa frequenza (60Hz) e ad alta frequenza (130Hz). I parametri del sonno venivano anche confrontati con quelli di pazienti con MP con sola terapia farmacologica (MP-MED) e controlli sani (CS).
Tutti i pazienti venivano sottoposti a registrazione polisonnografica, nel caso dei pazienti con stimolazione sono state effettuate due registrazioni, una con frequenza di stimolazione a 60Hz e l’altra a 130Hz. E’ stata quindi effettuata l’analisi della micro e macro struttura del sonno, analisi quantitativa della potenza spettrale dell’EEG e delle oscillazioni lente di sonno. Abbiamo reclutato 10 paziente con MP con stimolazione (MP-STIM), 10 MP-MED, 10 CS, senza differenze per età nei 3 gruppi, né per durata di malattia nei pazienti. MP-STIM presentavano una durata di sonno REM maggiore a 60Hz confrontata con 130Hz. Il sonno NREM non si modificava. MP-MED presentavano peggiori parametri di sonno dei CS sia nella micro che macrostruttura del sonno, mentre i pazienti MP-STIM presentavano valori intermedi tra PD-MED e CS. Nell’analisi quantitativa dell’EEG è stato evidenziato un aumento dell’attività Theta a 60Hz. Basse frequenze di stimolazione possono modulare il sonno per un possibile effetto su NPP, come proposto per spiegare il miglioramento sulla marcia che tali hanno tali frequenze
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