F06 When and how does manifest hd begin? a comparison of age at onset of motor and non-motor symptoms

Abstract

Background In his classical paper, George Huntington described movement disorder and psychiatric symptoms. In 1915, Davenport described ‘a biotype in which the tremors are absent but mental deterioration present’. In 1921, Entres used the term ‘chorea sine chorea’ to depict onset of HD without motor symptoms. Until today diagnosis of HD without overt motor symptoms is an unmet need. Aims Present corroborated data on age at onset and onset of clinical symptoms (motor, cognitive, behavioral) as available form charts of patient seen at the GHI out-patient clinic. Methods/techniques SPSS analysis of age at onset of symptoms of 260 symptomatic HD patients (DCL=4) available for analysis at GHI before December 2017. Results/outcome In those 260 patients both age at diagnosis and at onset of motor symptoms was documented. In 10 patients of this group, HD was diagnosed in an external center before documented motor onset. In 9 of these cases, diagnosis was established within 1 year after motor onset. Depression was documented in 196 of the 260 patients. Depression was present in 32% before the onset of motor symptoms and was the symptom that appeared more frequently before motor symptoms than any other symptom. Cognitive problems were documented in 211 cases, but occurred in only 15% before the onset of motor symptoms. Conclusion New guidelines are needed to enable clinicians to provide adequate care early and establish a reliable diagnosis of HD in the absence of overt motor symptoms, permitting access to health care support.