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 estimate for the prevalence of these patients. We also surveyed HD clinician experts on what would make them consider an HD test and compared both HD and HDPC patients to these expectations to decide whether they could be distinguished clinically; this proved impossible even when comparing symptom patterns. We re-analysed existing gene panel data for likely and potentially deleterious variants. Furthermore, we determined principles to prioritise patients for whole-genome sequencing (WGS). It was used to probe a 50 patient strong subcohort of HD phenocopy syndromes for known causes of HD-like and other neurodegenerative disease, identifying one ATXN1 expansion using ExpansionHunter®. This was a small genetic substudy and therefore unsurprisingly no other known deleterious variants could be identified as in these cryptic understudied syndromes. Novel variants in known genes and variants in genes not yet linked to neurodegeneration may play an outsized role.

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

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