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C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature

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The C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association with the FTD/ALS spectrum disorders is well established, and it is considered… Click to show full abstract

The C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association with the FTD/ALS spectrum disorders is well established, and it is considered to be one of the leading related genes. It has also been reported as a possible cause of several other phenotypes, including parkinsonism and other movement disorders. Its significance, though outside the FTD/ALS spectrum, is not well defined.

Keywords: c9orf72 relevance; parkinsonism movement; movement; movement disorders

Journal Title: Movement Disorders Clinical Practice
Year Published: 2018

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