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

Background: Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.

Methods: Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed.

Genetic testing in dementia - utility and clinical strategies.

Techniques for clinical genetic testing in dementia disorders have advanced rapidly but remain to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and can offer options for clinical trials. The likelihood of identifying a specific genetic cause of dementia depends on the clinical condition, the age at onset and family history.

The clinical, neuroanatomical, and neuropathologic phenotype of -associated frontotemporal dementia: A longitudinal case report.

Introduction: Mutations in the TANK-binding kinase 1 () gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of -associated FTD is currently unclear.

Methods: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the gene.