Objective: To recognize the contributions of Dr. Paula Coutinho to Neurology through her studies of Machado-Joseph’s disease (SCA3)

Background: One of the unique opportunities in the life of a physician is to closely follow the discovery of a previously unknown disease. Few are those who were involved in the description of the genetics, pathology, clinics, and epidemiology of a new condition. In the past decades one of those individuals, Dr. Paula Coutinho, became acclaimed in Neurology through her study of SCA3.
 

Methods: The authors present the most relevant contributions of Dr. Coutinho to both Portuguese and International Neurology.

Results: Dr. Coutinho described with details the main characteristics of a new disease that, at the time, was strongly believed to have originated in the Portuguese islands. In her work, published in the Portuguese medical journal “O Médico” in 1977, she was the first person to unite the diagnosis of the families Machado, Thomas and Joseph (described as different neurodegenerative diseases in descendants of Portuguese immigrants in the USA) under the same genetic condition, but with different phenotypical manifestations. After reviewing all cases of the 15 families in the Açores Islands, in 1978 she defined for the first time the clinical characteristics of the disease, further classifying it in subtypes, improving the diagnosis and even establishing the disease’s prognosis. In 1980 she rechristened this condition as Machado-Joseph’s disease (MJD) and proposed the main diagnostic criteria for MJD, refining them in 1992 in her PhD thesis, in which she detailed its genetics, clinical presentation, pathology and epidemiology.

Conclusions: Dr. Coutinho’s work investigation of MJD served as the basis for the genetic tracking of hereditary ataxias and spastic paraparesis in Portugal, as it allowed for the identification of several other families in the country. Similarly, it helped identify many other affected families worldwide.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dr-paula-coutinhos-seminal-contributions-to-the-understanding-of-machado-josephs-disease/