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Beyond genetic factors, the onset of Huntington’s disease later in life was related to being in a stable partnership, living in large cities, and having lower education levels, a large-scale analysis suggests. In comparison, a younger age at disease onset was associated with suicidal behavior and the use of…

A 56-year-old man with undiagnosed late-onset Huntington’s disease presented with Parkinson’s disease-like symptoms, including bradykinesia, or slowness of movement, a case study reported. He was correctly diagnosed after clinicians learned of a family history of Huntington’s and ordered genetic testing. Given the diagnosis, the researchers recommended that Huntington’s disease…

A recent report describes the case of a Chinese woman with a family history of Huntington’s disease (HD) who presented with symptoms but was not diagnosed until 10 years after symptom onset. The case study, “Report of a family with Huntington’s disease,” was published in the…

Long-term trials of interventions to promote physical activity for people with Huntington’s disease are feasible, with a “nested trial” approach that assigns some patients already taking part in an observational study to an activities group while others serve as controls, a study reported. The yearlong effort was designed as a…

The international Huntington’s Disease Regulatory Science Consortium (HD-RSC) developed a biological definition of Huntington’s disease (HD) and a staging system that, for the first time, covers the entire disease course. The development and validation processes of the new framework, called the Huntington’s Disease Integrated Staging System (HD-ISS), were…

Levels of neurofilament light chain, a marker of nerve cell degeneration, are increased in children with juvenile-onset Huntington’s disease (JOHD), according to a new study. Results also suggest that levels of this protein, known as NfL, are correlated in these young patients both with disease severity and damage to…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

Most young people at risk of developing Huntington’s disease are not given information about the disorder at the time they’re told about the risk and end up seeking it on their own online, according to a new study. “This study is the first to take an in-depth look at…

AMT-130, uniQure’s investigational gene therapy for Huntington’s disease, was generally well-tolerated and led to reductions in the levels of mutant huntingtin protein a year after treatment, according to an update from an ongoing Phase 1/2 trial. Moreover, levels of neurofilament light (NfL), a biomarker of nerve damage —…

Scientists have created a map of the cells contained in human brain blood vessels. Using the map as a reference, they have discovered certain gene changes occurring in specific brain cells in Huntington’s disease. The study, “Single-cell dissection of the human brain vasculature,” was published in Nature.