Article

Machado Joseph disease: clinical and genetic aspects, and current treatment

2015-03-18

Abstract excerpt

Introduction: Spinocerebellar ataxia (SCA) type 3/Machado–Joseph disease (SCA3/MJD) is the most common SCA worldwide. SCA3/MJD is an adult onset cerebellar ataxia associated with pyramidal, lower motor neuron and extrapyramidal findings, resulting in heterogeneous phenotypic presentations. SCA3/MJD is caused by a CAG repeat expansion at the ATXN3 gene that codes for ataxin-3. Mutant ataxin-3 trigger multiple, inte...

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Literature Corpus work: 023fe82b-fd5e-5e6e-84ce-24ac8a98b2e4
DOI: 10.1517/21678707.2015.1025747

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