Disturbo del controllo degli impulsi e sindrome da disregolazione dopaminergica nella malattia di Parkinson associata a mutazioni del gene Parkina o glucocerebrosidasi

Aim: To evaluate whether the presence of GBA or PARK2 gene mutations are associated to more severe impulse control disorders and related behaviors (ICD-RB) in Parkinson’s disease (PD). Methods: We enrolled a consecutive series of PD patients according with the following criteria: diagnosis of PD according to Gelb’s criteria; early-onset of PD (&lt; 50 years) or positive family history for PD; disease duration of at least 3 years; dopaminergic treatment of at least 300 LED; genetic assessment available for PARK2 and GBA. Each patient was evaluated with a complete neuropsychological assessment, ICD-RB was investigated using QUIP-rating scale (0-112). QUIP scores were expressed as means (±SD) and compared between the three groups by non-parametric analysis. Results: We enrolled a series of 38 patients. 15 patients carried a mutation in the GBA gene, 12 patients carried a mutation in the Parkin gene, 11 patients were not carriers. There was no difference among groups in age at onset, disease duration or LED. Frequency of ICD was significantly higher in the GBA group compared with Parkin and non carriers (p&lt;0.05 for each comparison). Patients who carried GBA mutation had higher subscores for hypersexuality (p&lt;0.05). Conclusions: We found more severe ICD-RB in PD patients who carry heterozygous GBA gene mutation than in Parkin patients or in non carrier. GBA mutation status may be an independent risk factor for impulse control disorder and related behaviours in patients with PD.</br

Rasagiline withdrawal Syndrome in Parkinson’s Disease

Parkinson’s disease (PD) patients using dopamine agonists can develop withdrawal symptoms, referred to as dopamine agonist withdrawal syndrome (DAWS), under dose tapering or discontinuation of these drugs. DAWS includes a severe stereotypical cluster of psychiatric and psychological symptoms encompassing severe mood and anxiety disturbances, autonomic symptoms, as well as generalized pain and drug cravings. However, symptoms of withdrawal of dopamine replacement therapies (DRT) are not simply limited to dopamine agonists tapering, as observed in PD patients on deep brain stimulation after dopaminergic drugs withdrawal related to surgery. To date, no DRT-related withdrawal syndrome has been described in PD patients who discontinue rasagiline, an irreversible inhibitor of monoamine oxidase-B (MAO-B). Here we report three PD patients who developed a severe withdrawal syndrome after rasagiline suspension. The syndrome was mainly characterized by prominent psychiatric disorders (depression, anxiety with panic attacks, dysphoria, and agitation) associated with fatigue, generalized pain, and autonomic manifestations (closely resembling symptoms of DAWS). In our opinion, this report suggests the importance of closely monitoring PD patients undergoing rasagiline suspension for withdrawal symptoms and provides interesting points of reflection on the role of rasagiline and other MAO-B inhibitors in mood disorders

Chronic Inflammatory Demyelinating Polyneuropathy after ChAdOx1 nCoV-19 Vaccination

Recently several patients, who developed Guillain&ndash;Barr&eacute; syndrome characterized by prominent bifacial weakness after ChAdOx1 nCoV-19 vaccination, were described from different centers. We recently observed a patient who developed a similar syndrome, later in the follow up he showed worsening of the neuropathy two months after the initial presentation. Repeat EMG showed reduced nerve sensory and motor conduction velocities of both upper and lower limbs, and a diagnosis of chronic inflammatory demyelinating polyneuropathy (typical CIDP) was made according to established criteria. Our report expands on the possible outcomes in patients who develop Guillain&ndash;Barr&egrave; syndrome after COVID-19 vaccinations and suggest that close monitoring after the acute phase is needed in these patients to exclude a chronic evolution of the disease, which has important implications for long-term treatment

Chronic Inflammatory Demyelinating Polyneuropathy after ChAdOx1 nCoV-19 Vaccination

Recently several patients, who developed Guillain–Barré syndrome characterized by prominent bifacial weakness after ChAdOx1 nCoV-19 vaccination, were described from different centers. We recently observed a patient who developed a similar syndrome, later in the follow up he showed worsening of the neuropathy two months after the initial presentation. Repeat EMG showed reduced nerve sensory and motor conduction velocities of both upper and lower limbs, and a diagnosis of chronic inflammatory demyelinating polyneuropathy (typical CIDP) was made according to established criteria. Our report expands on the possible outcomes in patients who develop Guillain–Barrè syndrome after COVID-19 vaccinations and suggest that close monitoring after the acute phase is needed in these patients to exclude a chronic evolution of the disease, which has important implications for long-term treatment

Causes of withdrawal of duodenal levodopa infusion in advanced Parkinson disease

We performed a real-life observation of patients with Parkinson disease (PD) who received duodenal levodopa infusion (DLI) to determine which adverse events caused treatment discontinuation and when such events occurred

Phantosmia in Parkinson’s Disease: A Systematic Review of the Phenomenology of Olfactory Hallucinations

Olfactory dysfunction is a prevalent non-motor symptom in Parkinson’s disease (PD), affecting approximately 65–90% of subjects. PD patients may also report odor perception in the absence of any external source, often referred to as olfactory hallucinations (OHs) or phantosmia. This study aims to explore the current understanding of OHs in PD and offer a comprehensive overview of their prevalence and characteristics. We conducted a systematic search of the literature published on PubMed from inception to July 2023 regarding OHs in PD, following PRISMA guidelines. From the 2875 studies identified through database searching, 29 studies fulfilled the necessary criteria and underwent data extraction. The frequency of OHs in PD patients varies widely, ranging from 0.5% to 18.2%, with female prevalence ranging from 36% to 75% of the patients. Olfactory experiences may vary widely, ranging from pleasant scents to unpleasant odors. Several studies have indicated the concurrent presence of other types of hallucinations alongside phantosmia, especially visual and auditory hallucinations. OHs in PD are a type of hallucination that has been largely overlooked. To gain a deeper understanding of OHs in PD patients, the next crucial step should involve the development and validation of a dedicated questionnaire