Synucleinopathies (also called α-Synucleinopathies) are neurodegenerative diseases characterised by the abnormal accumulation of aggregates of alpha-synuclein in neurons, nerve fibres or glial cells.[ Other rare disorders, such as various neuroaxonal dystrophies, also have α-synuclein pathologies.]
Presentation
The synucleinopathies have shared features of parkinsonism, impaired cognition, , and visual hallucinations.
Synucleinopathies can 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.[
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Alpha-synuclein deposits can affect the myocard 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. Symptoms include upper gastrointestinal tract dysfunction such as Gastroparesis or lower gastrointestinal dysfunction, such as constipation and prolonged stool transit time.[
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Urinary retention, nocturia, increased urinary frequency and urgency, and over- or underactive bladder are common in people with synucleinopathies.[ Sexual dysfunction usually appears early in synucleinopathies, and may include erectile dysfunction, and difficulties achieving orgasm or ejaculation.][
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Diagnosis
Differential diagnosis
Persons with PD are typically less caught up in their visual hallucinations than those with DLB.[ In MSA, dysautonomia appears earlier and is more severe, and is accompanied by uncoordinated movements, while visual hallucinations and fluctuating cognition are less common than in DLB.][
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See also
