Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases

M Carmona-Abellan; R Del Pino; A Murueta-Goyena; M Acera; B Tijero; K Berganzo; I Gabilondo; J C Gómez-Esteban

doi:10.1016/j.nrl.2021.04.007

Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases

Neurologia (Engl Ed). 2021 May 26:S0213-4853(21)00073-6. doi: 10.1016/j.nrl.2021.04.007. Online ahead of print.

[Article in English, Spanish]

Authors

M Carmona-Abellan¹, R Del Pino², A Murueta-Goyena², M Acera², B Tijero³, K Berganzo⁴, I Gabilondo⁵, J C Gómez-Esteban³

Affiliations

¹ Neurodegenerative Diseases Division, Health Research Institute Biocruces, Barakaldo, Bizkaia, Spain. Electronic address: marcarmonaabellan@gmail.com.
² Neurodegenerative Diseases Division, Health Research Institute Biocruces, Barakaldo, Bizkaia, Spain.
³ Neurodegenerative Diseases Division, Health Research Institute Biocruces, Barakaldo, Bizkaia, Spain; Hospital Universitario de Cruces, Barakaldo, Bizkaia, Spain.
⁴ Hospital Universitario de Basurto, Bilbao, Bizkaia, Spain.
⁵ Neurodegenerative Diseases Division, Health Research Institute Biocruces, Barakaldo, Bizkaia, Spain; Hospital Universitario de Cruces, Barakaldo, Bizkaia, Spain; Ikerbasque, The Basque Foundation for Science, Spain.

PMID: 34052041
DOI: 10.1016/j.nrl.2021.04.007

Abstract

Background and objective: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease. In this case series we aim to describe in detail the features of MSA patients.

Material and methods: Unified MSA Rating Scale (UMSARS) score, structural and functional imaging and cardiovascular autonomic testing, are summarized since early stages of the disease.

Results: UMSARS proved to be useful to perform a follow-up being longitudinal examination essential to stratify risk of poor outcome. Neuropathological diagnosis showed an overlap between parkinsonian and cerebellar subtypes, with some peculiarities that could help to distinguish from other subtypes.

Conclusion: A better description of MSA features with standardized test confirmed by means of neuropathological studies could help to increase sensitivity.

Keywords: Afectación cerebelosa; Autonomic function; Cerebellar impairment; Función autonómica; Glial cytoplasmic inclusions; Inclusiones citoplasmáticas gliales; Oligodendrocitos; Oligodendrocytes; Parkinsonism; Parkinsonismo; Sinucleína; Synuclein.