Spinocerebellar Ataxia Type 3 Phenotypically Resembling Parkinson Disease in a Black Family | Zendy

Katrina Gwinn | Zendy; Andrew Singleton | Zendy; Padraig O’Suilleabhain | Zendy; Michael A. Boss | Zendy; David Nicholl | Zendy; Amanda Adam | Zendy; Jennifer Hussey | Zendy; Peter Critchley | Zendy; John Hardy | Zendy; Matthew J. Farrer | Zendy

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Spinocerebellar Ataxia Type 3 Phenotypically Resembling Parkinson Disease in a Black Family

Author(s) -

Katrina Gwinn,

Andrew Singleton,

Padraig O’Suilleabhain,

Michael A. Boss,

David Nicholl,

Amanda Adam,

Jennifer Hussey,

Peter Critchley,

John Hardy,

Matthew J. Farrer

Publication year - 2001

Publication title -

archives of neurology

Language(s) - English

Resource type - Journals

eISSN - 1538-3687

pISSN - 0003-9942

DOI - 10.1001/archneur.58.2.296

Subject(s) - parkinsonism , machado–joseph disease , spinocerebellar ataxia , locus (genetics) , genetics , ataxia , parkinson's disease , levodopa , degenerative disease , biology , central nervous system disease , disease , pathology , medicine , neuroscience , gene

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), can present with parkinsonism. However, classically, atypical features, including pyramidal and cerebellar signs, peripheral neuropathy, and/or anterior horn cell dysfunction, are also seen. Levodopa responsiveness is unusual in this disorder.

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