A distinct neuromelanin magnetic resonance imaging pattern in parkinsonian multiple system atrophy.

Background: Parkinsonian variant of multiple system atrophy is a neurodegenerative disorder frequently misdiagnosed as Parkinson's disease. No early imaging biomarkers currently differentiate these disorders.

Methods: Simple visual imaging analysis of the substantia nigra and locus coeruleus in neuromelanin-sensitive magnetic resonance imaging and nigrosome 1 in susceptibility-weighted sequences was performed in thirty patients with parkinsonian variant of multiple system atrophy fulfilling possible/probable second consensus diagnostic criteria.

[Recommendations about Multiple Sclerosis Management during Pregnancy, Partum and Post-Partum: Consensus Position of the Portuguese Multiple Sclerosis Study Group].

Multiple sclerosis typically affects young women of reproductive age. Therefore, all healthcare professionals involved in the follow-up of multiple sclerosis patients must be prepared to discuss pregnancy and breastfeeding issues and provide the best possible counselling. However, there are still many doubts and heterogeneous clinical approaches partly due to the lack of consensus and guidelines.

Inhaled levodopa for intermittent treatment of OFF episodes in patients with Parkinson's disease.

: Many patients with advanced Parkinson's disease (PD) have inadequate control of motor symptoms despite optimized treatment. Predictable and unpredictable OFF periods severely interfere with the quality of life. A drug that easily and rapidly reverts the OFF state is still needed.

End of life planning in parkinsonian diseases.

Introduction: The utilization of advance directives in individuals with Parkinson's disease (PD) and atypical parkinsonian disorders (APD) and their caregivers requires further investigation. This study determined the utilization rates of four forms of advance directives: living will, durable power of attorney, durable power of attorney for healthcare, and medical orders in these individuals. We hypothesized that having a neurodegenerative parkinsonian disorder or exposure to these disorders would increase the likelihood of having advance directives.

[Recommendations About Multiple Sclerosis Management During Pregnancy, Partum and Post-Partum: Consensus Position of The Portuguese Multiple Sclerosis Study Group and The Portuguese Society of Obstetrics and Maternal-Fetal Medicine].

Multiple sclerosis typically affects young women of reproductive age. Therefore, all healthcare providers involved in the follow-up of multiple sclerosis patients must be prepared to discuss pregnancy and breastfeeding issues, and provide the best possible counselling. However, there are still many doubts and heterogeneous clinical approaches partly due to the lack of consensus and guidelines.

Consensus Recommendations of the Multiple Sclerosis Study Group and Portuguese Neuroradiological Society for the Use of the Magnetic Resonance Imaging in Multiple Sclerosis in Clinical Practice: Part 1.

Introduction: Magnetic resonance imaging is established as a recognizable tool in the diagnosis and monitoring of multiple sclerosis patients. In the present, among multiple sclerosis centers, there are different magnetic resonance imaging sequences and protocols used to study multiple sclerosis that may hamper the optimal use of magnetic resonance imaging in multiple sclerosis. In this context, the Group of Studies of Multiple Sclerosis and the Portuguese Society of Neuroradiology, after a joint discussion, appointed a committee of experts to create recommendations adapted to the national reality on the use of magnetic resonance imaging in multiple sclerosis.

Examining the motor phenotype of patients with both essential tremor and Parkinson's disease.

Background: The subset of patients with essential tremor (ET) that develops Parkinson's disease (PD) has not been fully clinically characterized.

Methods: Motor features were retrospectively reviewed in 18 ET patients who developed PD (ET→PD), 20 ET and 30 PD patients with similar ages and disease durations.

Results: Fewer ET→PD than ET patients had widespread postural and/or action tremor (2/17 [11.

Kalirin: a novel genetic risk factor for ischemic stroke.

Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been performed in stroke patients.

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients.

Background: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk.