[The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease].
Autosomal dominant spinocerebellar ataxia (SCA) is an heterogeneous group of neurodegenerative diseases involving cerebellum and its connections. Several forms have already been described, and it seems the most common form of SCA observed among the many series of families described worldwide is SCA3 (Machado-Joseph disease). SCA3 is characterized by a marked phenotypic expression with a wide spectrum of clinical findings including cerebellar ataxia, pyramidal and extrapyramidal (e.g. dystonia, parkinsonism), lower motor neuron syndrome and peripheral neuropathy. The Drew family of Walworth, England, has several affected members seen and described by famous neurologists including Gowers, Stewart, Collier, Kinnier-Wilson, Turner, Worster-Drought, Ferguson, Critchley, and Anita Harding from 1895 to our days. In fact, the final genetic diagnosis of this family, 100 years after its initial description, turned out to be SCA3. In this paper, we describe the full of twists and turns historical trajectory from the initial clinical description to the final genetic diagnosis.
Teive
Hélio A Ghizoni
HA
Serviço de Neurologia, Departamento de Clinica Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
Arruda
Walter Oleschko
WO
D005260:Female; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics / Q000266:history*; D008297:Male; D010375:Pedigree