Multiple System Atrophy: Clinical, Genetics, and Neuropathology

SCHOTTLAENDER, LUCIA V.; SAILER, ANNA; AHMED, ZESHAN; DICKSON, DENNIS; HOULDEN, HENRY; ROSS, OWEN

Neurodegeneration

John Wiley & Sons

Año: 2017; p. 58 - 71

The core features of multiple system atrophy (MSA) are parkinsonism, cerebellar syndrome, and autonomic dysfunction; pyramidal signs are also not uncommon in patients with MSA. The initial motor disturbance in 203 pathologically proven MSA cases was parkinsonism in 58% of cases and cerebellar ataxia in 29%. Non‐motor symptoms occurring before any motor disorder are present in 31% of MSA cases. Symptomatic dysautonomia was present in 99% of patients in the final analysis of the European MSA Registry, and autonomic dysfunction was the most frequent feature of MSA. Mild hyposmia was found in clinical MSA cases, but a retrospective analysis of some definite MSA cases showed normal olfaction in all of them. Research through DNA and brain banks, and serum and cerebrospinal fluid (CSF) biomarkers protocols, are essential for MSA diagnosis. Genetic variation, both protective and risk, will drive disease susceptibility and inform prognosis and therapeutic intervention strategies.