Editorial: New insight into Huntington's disease: From neuropathology to possible therapeutic targets

Abstract

In 1872, George Huntington described an illness that is “confined to certain families… in whose veins the seeds of the disease are known to exist.” That seed was later identified as the expansion of the cytosine-adenine-guanine (CAG) repeats within the huntingtin gene that leads to an expanded glutamine repeat tract in the N-terminal end of the huntingtin protein (Gusella et al., 1983; MacDonald et al., 1993; Huntington, 2003). This illness is known as Huntington's disease and depending on the length of the expanded glutamine tract, it can manifest during childhood or adulthood. In the former, the main phenotypical alterations are body rigidity and epileptic seizures. The presence of psychiatric disturbances, the progressive development of generalized involuntary movements, and dementia characterize the onset of Huntington's disease during adulthood.