Psychiatric Disorders in Alzheimer Disease With the Presenilin-1 L226F Mutation.

The presenilin-1 (PSEN1) L226F mutation has been linked to very early onset of prominent behavioral and psychiatric disturbances followed by cognitive decline within a few years. We report a novel case of early-onset Alzheimer disease that was originally diagnosed as psychotic depression in a patient with this gene mutation. We also compare our patient's clinical data to those of other cases of this mutation that have been described in the literature. Because atypical behavioral and psychiatric disturbances in young (<40 years) individuals can herald Alzheimer disease, a tight collaboration between psychiatrists and neurologists is crucial for an early diagnosis.

Respiratory dysfunction in Parkinson's disease: a narrative review.

The presence of respiratory symptoms in Parkinson's disease (PD) has been known since the first description of the disease, even though the prevalence and incidence of these disturbances are not well defined. Several causes have been reported, comprising obstructive and restrictive pulmonary disease and changes in the central ventilatory control, and different pathogenetic mechanisms have been postulated accordingly. In our review, we encompass the current knowledge about respiratory abnormalities in PD, as well as the impact of anti-Parkinsonian drugs as either risk or protective factors. A description of putative pathogenetic mechanisms is also provided, and possible treatments are discussed, focusing on the importance of recognising and treating respiratory symptoms as a key manifestation of the disease itself. A brief description of respiratory dysfunctions in atypical Parkinsonism, especially α-synucleinopathies, is also provided.

Bilateral ischemia of the insular cortex after high altitude climbing: A case report.

High altitude exposure could be related to neurological events such as stroke-like episodes, even if the exact pathogenic mechanism is still debated. We describe the case of a caucasian woman who had a bilateral insular ischemic stroke after a rapid ascent above 4000 m in which a secondary embolic dissemination due to a right insular stroke, maybe related to high altitude hemoconcentration, could be hypothesized. In our opinion a prolonged cardiac rhythm monitoring have to be considered especially when no other embolic sources are found and for lesions involving the insular cortex.