Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Abstract excerpt

When the genetic test for the Huntington’s disease (HD) HTT expansion first became available almost 30 years ago, only 1% of patients tested negative. Since then, the test has become more accessible and the HD phenotype has expanded. More patients are being tested overall, and more negative tests are being received. These patients are deemed “HD phenocopy syndromes” (HDPC). In this study we established a current...

Topics

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• Aged
• Genetic Testing
• Genotype
• High-Throughput Nucleotide Sequencing
• Huntington Disease
• Phenotype
• Syndrome
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

4638cb5f-f96f-538d-a36a-158ff7c6e285

DOI

10.1101/2022.09.23.509161