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Because of COVID-19 outbreak, regular clinical services for Parkinson’s disease (PD) patients have been suddenly suspended, causing worries, confusion and unexpected needs in such frail population. Here, we reviewed the messages spontaneously sent by patients to an Italian PD clinic during the first two weeks of COVID-19 lockdown (9–21 March 2020), in order to highlight their main needs and then outline appropriate strategies of care for this critical period. One hundred sixty-two messages were analysed. Forty-six percent queried about clinical services; 28% communicated an acute clinical worsening for which a therapeutic change was done in 52% of cases; 17% (those patients with younger age and milder disease) asked about the relationship between PD and COVID-19; 8% informed about an intercurrent event. Our analysis suggests that PD patients’ needs during COVID-19 emergency include appropriate and complete information, a timely update on changes in clinical services, and the continuity of care, even in a remote mode. By addressing these issues, acute clinical worsening, complications and subsequent therapeutic changes could be prevented. In this perspective, telecommunication systems and virtual medicine should be implemented.

Background: Migraine is a disabling neurovascular disorder characterized by recurrent attacks that lead to extracranial and visual involvement. Several studies have investigated the retinal vasculature features in individuals with migraine, but there have been conflicting results. Objective: To evaluate retinal structure in migraine patients before (T0) and after 6-month therapy (T1) with anti-calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs), using optical coherence tomography (OCT) imaging. Design: A case-control and longitudinal study was conducted between January 2021 and December 2023, including 20 eyes from 10 healthy controls (HCs) and 32 eyes of 16 patients with migraine and treated with anti-CGRP mAbs according to AIFA criteria. Methods: Patients underwent OCT angiography (OCT-A) to assess retinal vessel density (VD) and spectral-domain OCT (SD-OCT) to evaluate central retinal thickness, macular structure, and peripapillary retinal nerve fiber layer thickness. These parameters were assessed in both groups at T0 and again after 6 months (T1) as part of routine clinical care. Results: All migraineurs exhibited a significant reduction in disease disability at T1, as assessed by clinical parameters. OCT data analysis revealed that individuals with migraine showed a significant increase in temporal retinal nerve fiber layer (RNFL) thickness and a reduction in nasal RNFL thickness compared to HCs. No differences in retinal circulation were observed between the groups at baseline. At T1, RNFL thickness remained sustained in the superior temporal sector, while the percentage VD of the superficial capillary plexus and radial peripapillary capillary significantly increased in the nasal perifoveal, inferior temporal, and hemi-inferior subregions. Conclusion: Our study suggests that specific retinal structural changes could precede vascular dysfunction in migraine and can be detected early by combining SD-OCT and OCT-A acquisitions. Short-term treatment with anti-CGRP mAbs may exert neuroprotective effects, potentially preventing permanent ocular damage. Trial registration: EyeHEAD Study (Trial registration number AIFA July/2024: IT 1735, www.aifa.gov.it/registro-studi-osservazionali). Plain language summary The impact of anti-CGRP monoclonal antibodies on retinal features in migraine patients Migraine patients show significant quadrant-specific structural RNFL changes compared to healthy controls, in the presence of still-preserved vascular networks; After short-term treatment with anti-CGRP mAbs, vascular perfusion increases in the superficial and radial peripapillary capillary, possibly helping to prevent irreversible ocular injury; OCT imaging may represent a rapid, useful, and non-invasive tool for monitoring migraine course and treatment outcome.

BackgroundAdult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive.ObjectivesTo analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients.MethodsA total of 11,071 medical charts from a 9-year period (2012–2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). All available data regarding phenomenology, diagnostic workup, aetiology, treatments, and long-term outcome from this cohort were collected and analysed.ResultsAdult-onset sporadic chorea occurred more frequently in females and presented with an acute-subacute onset. Cerebrovascular diseases accounted for 68% of aetiology; further causes were structural brain lesions, internal diseases, and other movement disorder syndromes. Clinical course was mild, with spontaneous resolution or minimal disturbances in 82% of cases. Neuroimaging was fundamental to diagnose 76% of adult-onset sporadic chorea, an appropriate clinical examination contributed to the 14% of diagnoses, whereas basic laboratory tests to the 10%.ConclusionsRevision of real-world data of adult-onset sporadic chorea patients from a single Italian cohort suggests that an accurate clinical examination, neuroimaging, and routine laboratory tests are useful to identify those cases underlying potentially severe but treatable conditions. Although in the majority of cases adult-onset sporadic chorea has mild clinical course and good response to symptomatic treatments, it is essential to run a fast diagnostic workup.

Subthalamic nucleus deep-brain stimulation (STN-DBS), in addition to a rapid improvement of Parkinson’s disease (PD) motor symptoms, can exert fast, local, neuromodulator activity, reducing β-synchronous oscillations between STN and the motor cortex with possible antikinetic features. However, STN-DBS modulation of β-band synchronization in extramotor cortical areas has been scarcely explored. For this aim, we investigated DBS-induced short-term effects on EEG-based cortical functional connectivity (FC) in β bands in six PD patients who underwent STN-DBS within the past year. A 10 min, 64-channel EEG recording was performed twice: in DBS-OFF and 60 min after DBS activation. Seven age-matched controls performed EEG recordings as the control group. A source-reconstruction method was used to identify brain-region activity. The FC was calculated using a weighted phase-lag index in β bands. Group comparisons were made using the Wilcoxon test. The PD patients showed a widespread cortical hyperconnectivity in β bands in both DBS-OFF and -ON states compared to the controls. Moreover, switching on STN-DBS determined an acute reduction in β FC, primarily involving corticocortical links of frontal, sensorimotor and limbic lobes. We hypothesize that an increase in β-band connectivity in PD is a widespread cortical phenomenon and that STN-DBS could quickly reduce it in the cortical regions primarily involved in basal ganglia–cortical circuits.

Background/Objectives: Parkinson’s disease (PD) is characterized by progressive neurodegeneration affecting both motor and non-motor functions. Identifying early alterations in PD patients before the onset of dopaminergic therapy is crucial for understanding disease progression and developing targeted interventions. This study aimed to investigate early changes in the putamen and thalamus in de novo PD patients using diffusion tensor imaging (DTI) compared to healthy controls. Methods: Thirty-one de novo PD patients and thirty-three healthy controls underwent DTI scanning. Tract-based spatial statistics were used to compare fractional anisotropy (FA) values between groups. Results: De novo PD patients exhibited significantly lower FA values in the right thalamus compared to controls, suggesting alterations in neuronal integrity or fiber degeneration in the early stages of the disease. However, no significant differences were demonstrated for FA values in the putamen between groups. Conclusions: We demonstrated that the FA value in the right thalamus was lower in PD compared with healthy controls. These findings highlight the potential of DTI as a non-invasive tool for detecting early neural changes in PD patients. Further studies would be helpful to assess the clinical utility of serial FA measurements of the subcortical gray matter in objective quantification of disease progression and monitoring of the therapeutic response.

IntroductionEarly -onset Parkinson’s disease (EOPD) labels those cases with onset earlier than fifty. Although peculiarities emerged either in clinical or pathological features, EOPD is managed alike typical, late-onset PD. A customized approach would be, instead, better appropriate. Accordingly, a deeper characterization of the clinical course, with an estimation of the disease progression rate, the therapy flow, and the main motor and non-motor complications occurrence, is needed.MethodsA longitudinal cohort of 193 EOPD patients (selected on a single-centre population of 2000 PD cases) was retrospectively analysed, providing descriptive statics on a series of clinical parameters (genetics, phenotype, comorbidities, therapies, motor and non-motor complications, marital and gender issues) and modelling the trajectories from diagnosis to 10 years later of both Hoehn and Yahr (H&Y) stage and levodopa equivalent daily dose (LEDD).ResultsEOPD had a prevalence of 9.7%, including few monogenic cases. It mostly appeared as a motor syndrome, with asymmetric, rigid-akinetic presentation. H&Y linearly progressed with an increment of 0.92 points/10 years; LEDD flow had a non-linear trend, increasing of 526.90 mg/day in 0–5 years, and 166.83 mg/day in 5–10 years. Motor fluctuations started 6.5 ± 3.2 years from onset, affecting up to 80% of the cohort. Neuropsychiatric troubles interested the 50%, sexual complaints the 12%. Gender-specific motor disturbances emerged.ConclusionWe shaped EOPD course, modelling a “brain-first” PD subtype, slowly progressive, with non-linear dopaminergic requirement. Major burden mostly resulted from motor fluctuations, neuropsychiatric complications, sexual and marital complaints, with a considerable gender-effect.

Menopause increases the risk for Parkinson’s disease (PD), although the underlying biological mechanisms have not been established in patients. Here, we aimed to understand the basis of menopause-related vulnerability to PD. Main motor and non-motor scores, blood levels of estradiol, testosterone, follicle-stimulating hormone, and luteinizing hormone, CSF levels of total α-synuclein, amyloid-β-42, amyloid-β-40, total tau, and phosphorylated-181-tau were examined in 45 women with postmenopausal-onset PD and 40 age-matched controls. PD patients had higher testosterone and lower estradiol levels than controls, and the residual estradiol production was associated with milder motor disturbances and lower dopaminergic requirements. In PD but not in controls, follicle-stimulating hormone levels correlated with worse cognitive scores and CSF markers of amyloidopathy and neuronal loss. In conclusion, menopause-related hormonal changes might differentially contribute to clinical-pathological trajectories of PD, accounting for the peculiar vulnerability to the disease.

Background and purpose Idiopathic normal pressure hydrocephalus (iNPH) pathogenesis is multifactorial. Systemic inflammation might have a role in gathering clinical–pathological trajectories. We aimed to shape the peripheral immune profile of iNPH and establish correlations with cerebrospinal fluid (CSF) markers, ventricular enlargement, and clinical outcomes. Methods We conducted a single‐center retrospective–longitudinal study, including 38 iNPH patients and 38 controls. Baseline iNPH Grading Scale and modified Rankin Scale (mRS) scores were collected with peripheral blood cell count, CSF amyloid‐β42 (Aβ42), total tau (t‐tau), phosphorylated‐181‐tau, and Evans index. Depending on 5‐year outcome, iNPH patients were grouped into “poor outcome” (PO; mRS ≥ 5) and “favorable outcome” (FO; mRS < 5). Biomarkers were compared and correlated with each other. Receiver operating characteristic analysis was performed. Results iNPH patients compared to controls had higher neutrophil‐to‐lymphocyte ratio (NLR; 2.43 ± 1.04 vs. 1.61 ± 0.47, p < 0.001), higher neutrophils (4.22 ± 0.86 1000/mL vs. 3.48 ± 1.34, p = 0.033), and lower lymphocytes (1.45 ± 0.55 1000/mL vs. 2.07 ± 0.86, p = 0.038), with the expected CSF biomarkers signature. In the patients' cohort, NLR was associated directly with t‐tau and inversely with Aβ42. NLR directly correlated with Evans index. PO patients compared to those with FO had higher NLR (3.25 ± 1.40 vs. 2.01 ± 0.77, p = 0.035) and higher t‐tau (274.76 ± 114.39 pg/mL vs. 150.28 ± 72.62, p = 0.017), with an area under the curve of 0.786 and 0.793, respectively. Conclusions iNPH patients present a proinflammatory state associated with neurodegeneration and predicting poor clinical outcome. Systemic inflammation represents a factor in the clinical–pathological progression of iNPH, and the NLR emerges as a potential prognostic index.

Parkinson’s disease (PD) symptomatology differs between females and males, yet the contribution of sex on sleep problems needs further analysis. Here, we aimed to investigate sex-specific patterns in the relationship between sleep problems, assessed using the Parkinson’s disease sleep scale (PDSS-2), non motor symptoms (NMS), measured by the NMS scale (NMSS), and health-related quality of life (HR-QoL), evaluated by the Parkinson’s disease questionnaire (PDQ-39), in a large cohort of PD patients. One-hundred-fifty-four PD patients were included in the study. Female PD patients (n = 62) exhibited a higher prevalence of sleep problems than males (n = 92), with nocturnal motor-related sleep issues being the most frequent. Sleep disturbances differently correlated with a range of NMS between the two sexes. In females, sleep problems mostly correlated with pain; on the other hand, sleep disturbances were linked to a frailer phenotype characterized by global dysautonomia, perception disturbances, and impaired cognitive function in males. Whether female PD patients experienced a lower HR-QoL than males, sleep disturbances were associated with a worse HR-QoL in both sexes. In conclusion, sleep problems in PD differently burden the two sexes, suggesting possible different etiopathogenesis, diagnostic investigations, and possibly tailored approaches.

IntroductionIn this work, we describe a new case of association between SCA2 and MND.Case ReportA 58-year-old man who was diagnosed with spinocerebellar ataxia type 2 presented dysphagia and a significant decline in his ability to walk, with a reduction in autonomy and the need to use a wheelchair. We performed electromyography and electroneurography of the four limbs and of the cranial district and motor-evoked potentials to study upper and lower motor neurons. Referring to the revised El Escorial criteria of 2015, ALS diagnosis was made.DiscussionConsidering different cases described in literature over the years, SCA2 could represent an important risk factor for developing ALS. In particular, the presence of alleles of ATXN2 with 27 and 28 CAG repeats seems to slightly decrease the risk of developing the disease, which would instead be progressively increased by the presence of alleles with 29, 30, 31, 32, and 33 repeats. The exact physiopathological mechanism by which the mutation increases the risk of developing the disease is currently unknown. Transcriptomic studies on mouse models have demonstrated the involvement of several pathways, including the innate immunity regulation by STING and the biosynthesis of fatty acid and cholesterol by SREBP.ConclusionCAG repeat expansions in the ATXN2 gene have been associated with variable neurological presentations, which include SCA2, ALS, Parkinsonism, or a combination of them. Further research is needed to understand the relationship between SCA2 and ALS better and explore molecular underlying mechanisms.