Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Abstract

Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of this disease, more than 40 years ago.

Professor Paula Coutinho (1941-2022)

“…2,3 The numerous studies published by her research group on Machado-Joseph disease became a world reference in the area. 1 She mentored and conducted, for over 12 years, a national systematic, population-based screening for hereditary ataxias and spastic paraparesis in Portugal. This remains a fantastic registry and never-ending resource of clinical, epidemiological, and genetic data, which led to the description of many new clinical and genetic entities.…”

“…She was the “favorite” disciple of renowned Professor Corino de Andrade, recognized worldwide for the first description of familial amyloidotic polyneuropathy (also locally known as paramyloidosis). 1 …”

“…Upon her return to Porto, she worked, between 1975 and 1992, at Centro de Estudos de Paramiloidose, and from 1977 to 1998 at the Neurology Department of Hospital Geral de Santo António. 1 Professor Paula Coutinho also became an invited Professor of Neurology (1979–1998) at Instituto de Ciências Biomédicas Abel Salazar (ICBAS) at the University of Porto. 1 …”

“… 1 Professor Paula Coutinho also became an invited Professor of Neurology (1979–1998) at Instituto de Ciências Biomédicas Abel Salazar (ICBAS) at the University of Porto. 1 …”

“… 2 , 3 The numerous studies published by her research group on Machado-Joseph disease became a world reference in the area. 1 …”