Multiple System Atrophy (MSA) is a rare neurodegenerative disorder that is characterized by a variable combination of parkinsonism (i.e. slowness of movement), cerebellar impairment (i.e. difficulties with balance and coordination) and autonomic failure (i.e. orthostatic hypotension, bladder, bowel and sexual dysfunction). According to the predominant clinical feature, MSA is further divided into MSA-P (predominant parkinsonism) and MSA-C (predominant cerebellar impairment). The estimated prevalence ranges from 1.9–4.9/100,000. The pathological hallmark is the accumulation of aggregated of α-synuclein in oligodendrocytes forming glial cytoplasmic inclusions. Some symptomatic treatments are available while neuroprotection or disease-modification remain unmet treatment needs.
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ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases