Study Objectives: Patent Foramen Ovale (PFO) is an independent risk factor for ischemic stroke by means of paradoxical embolization, due to Right-to-Left Shunt (RLSh). The higher prevalence of PFO found in OSAS respect to the general population could be due to the chronic effect of the intra thoracic pressure changes during periods of obstructive sleep apnea. This study aimed to re-evaluate the magnitude of RLSh in subjects With Obstructive Sleep Apnea Syndrome (OSAS) and diagnosed PFO after a long period of CPAP treatment.

Design and Setting: Assessment of PFO and concomitant OSAS. Application of CPAP treatment with control of compliance. Re-evaluation of RLSh through the assessed PFO at follow-up (after 41 ± 6 months) by means of Transcranial Doppler with contrast medium injected in antecubital vein. Participants: Eighteen OSAS subjects affected by PFO (mean age 56 ± 11 years). Interventions: They underwent Transcranial Doppler, with injection of agitated saline solution mixed with air during normal breathing and Valsalva maneuver.

Measurements and Results: CPAP treatment has chronically applied by 15 of 18 subjects (83%). RLSh magnitude did not change in the 3 subjects, who had not applied the CPAP treatment. In 4 of the 15 subjects, who used the CPAP treatment, no RLSh could be recorded (PFO closure). The difference between CPAP-user and CPAP–non-users was significant (p<0.01). In the other 11 of this subgroup RLSh magnitude was reduced respect to baseline recording. Multiple regression analysis modelling, magnitude of RLSh correlated mainly to the weekly CPAP use (days/week) negatively and the condition of atrial fibrillation positively.

Conclusion: In the nocturnal sleep period RLSh can occur during single obstructive apneas in subjects with OSAS and concomitant presence of PFO. This can be a risk factor for cerebrovascular diseases. This risk could probably increase proportionally to the respiratory disturbance index Compliance to CPAP treatment is able to reduce RLSh magnitude.

The differential diagnosis between many types of vascular and demyelinating diseases is sometimes difficult. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes, but its diagnosis is sometimes difficult and requires time and molecular tests.

The aim of this case report is to present a misdiagnosed family in which three male patients were treated with interferon 1β due to clinical and imaging manifestations suggestive of multiple sclerosis, but in the end, CADASIL was diagnosed.

A 48-years-old male presented an episode of central right facial palsy and progressive ipsilateral hemiparesis with the familiar antecedent of a non-specific central nervous system illness present in a brother and in a cousin. Under the diagnosis of multiple sclerosis, the patient was managed with interferon 1β, yet, he presented a new focal deficit despite treatment. After realizing the familiar pattern among the patients, and reconsidering the clinical and imaging characteristics, the multiple sclerosis diagnosis was unlikely, so the brother and cousin were re-evaluated, and a Notch 3 gene mutation was found, so that finally, the correct diagnosis of CADASIL was made.

This case report shows the importance of a familial approach when diagnosis seems to be unclear and there is no improvement in the control of the disease. Also, shows a familial approach in a very rare and misdiagnosed disease.

Parkinson’s disease (PD) is a neurodegenerative disorder which ranks second in prevalence to Alzheimer’s disease and is characterized by motor and non-motor symptoms. Along with the most traditional description, motor symptoms include verbal behavioural problems, like voice changes and articulation alterations, as well as non-verbal behavioural difficulties, such as changes in face expression, lack of fluidity in body movement and abnormal body posture. All of these can cause people to feel really uncomfortable when struggling with communicational situations. The aim of this study is to extend previous investigations on communication in PD, first by exploring the non-verbal behaviour in a sample of PD patients, and second by framing our results in the theoretical background of paradoxical kinesia in PD. We developed an analytical description of videotaped behaviour of PD patients during therapeutic theatre sessions, along with the application of PDQ-39. Our results make it possible to conclude that this group of people with PD do not perceive communication as a problem they have to deal with frequently. However, there are some particularities about communication probably associated with people’s difficulties with movement and its emotional and social consequences. This is in line with the behavioural analysis in which people with PD showed preserved communicational abilities and compensatory strategies, which were effective to communicate messages and feelings. Our results allow us to suggest that people with PD have preserved capabilities to express themselves in communicational settings. This is consistent with the occurrence of paradoxical kinesia, that is, the possibility that people with PD may act as if they did not have the movement disorder, given the appropriate environment and their preserved capabilities.

The translation of Multiple Sclerosis from its pathological origins to its imaging manifestations has been researched extensively. We analyzed the literature surrounding the phenomenon of the central vein sign found within white matter lesions in magnetic resonance imaging of Multiple Sclerosis patients. Additionally, we linked the central vein sign with the blood-brain barrier integrity, found supporting evidence showing veins are structurally and physiologically more susceptible to inflammation. Another contributing factor we related with this radiological phenomenon is the vascular endothelium growth factor and interleukin-1. Finally, we reviewed the vascular implications during demyelination to relate the radiological representation of the central vein sign on magnetic resonance imaging with the pathogenesis of Multiple Sclerosis.

There is a clear sex bias in the incidence, prevalence and outcome of many neurodegenerative disorders. The high incidence of these diseases in an increasingly aging population has raised interest in understanding the relevance of sex in the progression of these diseases and their treatment. Important sex differences have been reported in autoimmune, neurodegenerative and mood related disorders.

In this review, we take an insight in the differential evolution of some neurodegenerative diseases depending on the sex, highlighting the importance of gonadal hormones in this process, and the implications of a proper understanding of the mechanism underlying these differences for the therapeutic strategies for the prevention and treatment of these diseases.