Synucleinopathies (also called α-Synucleinopathies) are neurodegenerative diseases characterised by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. There are three main types of synucleinopathy: Parkinsons disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Other rare disorders, such as various neuroaxonal dystrophies, also have α-synuclein pathologies. Additionally, autopsy studies have shown that around 6% of sporadic Alzheimers Disease exhibit α-synuclein positive Lewy pathology, and are sub-classed as Alzheimers Disease with Amygdalar Restricted Lewy Bodies (AD/ALB). Presentation
The synucleinopathies have shared features of parkinsonism, impaired cognition, sleep disorders, and visual hallucinations.Synucleinopathies can sometimes overlap with tauopathies, possibly because of interaction between the synuclein and tau proteins.REM sleep behavior disorder (RBD) is a parasomnia in which individuals with RBD lose the paralysis of muscles (atonia) that is normal during rapid eye movement (REM) sleep, and act out their dreams or have other abnormal movements or vocalizations. Abnormal sleep behaviors may appear decades before any other symptoms, often as an early sign of a synucleinopathy. On autopsy, 94 to 98% of individuals with polysomnography-confirmed RBD are found to have a synucleinopathy—most commonly DLB or PD. Other symptoms of the specific synucleinopathy usually manifest within 15 years of the diagnosis of RBD, but may emerge up to 50 years after RBD diagnosis.Alpha-synuclein deposits can affect the cardiac muscle and blood vessels. Almost all people with synucleinopathies have cardiovascular dysfunction, although most are asymptomatic.From chewing to defecation, alpha-synuclein deposits affect every level of gastrointestinal function.
A papillary fibroelastoma is a primary tumor of the heart that typically involves one of the valves of the heart. Papillary fibroelastomas, while considered generally rare, make up about 10 percent of all primary tumors of the heart. They are the third most common type of primary tumor of the heart, behind cardiac myxomas and cardiac lipomas. Signs and symptoms
A papillary fibroelastoma is generally considered pathologically benign, however outflow obstruction or embolism can be associated with syncope, chest pain, heart attack, stroke and sudden cardiac death. Symptoms due to papillary fibroelastomas are generally due to either mechanical effects of the tumor or due to embolization of a portion of the tumor to a distal organ. In particular, chest pain or syncope may be due to transient occlusion of the left main coronary artery by the tumor, while a heart attack or sudden cardiac death may be due to embolization of a portion of the tumor into a coronary artery. Diagnosis
Papillary fibroelastoma are typically found and accurately diagnosed by imaging. The diagnosis is confirmed by pathology. Histologically, papillary fibroelastomas have branching avascular papillae, composed of collagen, that are covered by endothelium. Treatment
If the tumor is found incidentally in an asymptomatic person, the treatment approach is controversial. Certainly a conservative approach is warranted in certain individuals. If the tumor is large, greater than 1 cm in asymptomatic patients, and pedunculated, a case may be made for surgical excision prior to symptoms developing due to the higher risk of embolism.