Session Time: 1:45pm-3:15pm
Location: Agora 2 West, Level 2
Objective: The authors debate if previous descriptions of cerebellar ataxias with autossomal dominant pattern of inheritance, resembling MJD phenotipically, should gain the merit of first descriptions of the disease.
Background: Machado-Joseph Disease (MJD), or Spinocerebellar Ataxia type 3 (SCA 3), was originally described in members of the families Machado, Thomas and Joseph, from São Miguel Island, Azores. After more than 40 years of the disease naming, which consider the first description dated on 1972.
Method: Review of previous articles open literature.
Results: It has been passed more than 40 years of the labeling of the disease, and still today we consider the first description dated on 1972. Nevertheless, previous descriptions of cerebellar ataxias with autosomal dominant pattern of inheritance, resembling MJD phenotipically, were made, without gaining its merit. From 1895, when William Gowers examined the patient William Drew, whose final diagnostic was Paralysis Agitans, in the National Hospital, until recent days, many doctors have examined members of the Drew family of Walworth. With a clear autosomal dominant pattern of inheritance, and a pleomorphic clinical characteristics among patients. Pierre-Marrie’s ataxia is remembered here. Schut et al, between 1950 and 1953, published the case of a 343-member family in which 45 ataxic known members presented a heterogeneous phenotypic ataxia. Boller and Segarra (1969) published a paper describing a family presenting progressive ataxia of adult onset. Seventeen members of a 40-member family were affected, in a clear autosomal dominant pattern. And, Taniguchi and Konigsmark made a description of three-generation family, in which among 16 persons affected by a progressive cerebellar ataxia, six were studied.
Conclusion: Previous descriptions of hereditary ataxia were made, resembling the heterogeneous phenotypic intrafamiliar presentation of MJD, but without genetic confirmation because of clear impediment of possibility on that time. Although the pathological descriptions were very distinct, they could also represent MJD cases.
To cite this abstract in AMA style:A. Meira, J. Pedroso, F. Germiniani, O. Barsottini, H. Teive. Reconstructing the history of Machado-Joseph disease [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/reconstructing-the-history-of-machado-joseph-disease/. Accessed November 29, 2023.
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