Abstract
BackgroundInvoluntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington’s disease (HD). Despite the fact that neuropsychiatric symptoms and cognitive decline may be early manifestations of HD, the clinical diagnosis is conventionally based on the presence of involuntary movements and a positive genetic test for the HD CAG repeat expansion. After investigating the frequencies of the triad manifestations in a large outpatient clinical cohort of HD gene-expansion carriers, we propose a new clinical classification.MethodsIn this cross-sectional study, 107 gene-expansion carriers from a Danish outpatient clinic were recruited. All participants underwent neurological examination, psychiatric evaluation and neuropsychological testing. Participants were categorised according to motor symptoms, neuropsychiatric symptoms, the use of psychotropic medication, and cognitive impairment.ResultsAmong the motor manifest HD gene-expansion carriers, 51.8% presented with the full symptom triad, 25.0% were defined as cognitively impaired in addition to motor symptoms, and 14.3% had neuropsychiatric symptoms along with motor symptoms. Only 8.9% had isolated motor symptoms. Among gene-expansion carriers without motor symptoms, 39.2% had neuropsychiatric symptoms, were cognitively impaired, or had a combination of the two.ConclusionThis is the first study to report the frequencies of both motor symptoms, cognitive impairment, and neuropsychiatric symptoms in HD gene-expansion carriers in a national outpatient HD clinical cohort. We found that almost 40% of the gene-expansion carriers without motor symptoms had either neuropsychiatric symptoms, cognitive impairment or both, emphasising that these patients are not premanifest in psychiatric and cognitive terms, suggesting that the current clinical classification is neither necessarily suitable nor helpful for this patient group. Some premanifest gene-expansion carriers may have psychiatric and/or cognitive symptoms caused by reactive stress or other pathology than HD. Acknowledging this fact we, however, suggest classifying all HD gene-expansion carriers into three clinical categories: premanifest, non-motor manifest, and motor manifest.
Highlights
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder presenting with progressive motor, cognitive, and neuropsychiatric symptoms [1]
One hundred and seven participants fulfilled the inclusion criteria and completed the study programme, 51 were premanifest gene-expansion carriers according to the motor criterion and the remaining 56 were motor manifest
There was no significant difference in gender or CAG repeat length in the two groups, but the motor manifest group, as expected, was significantly older and had higher UHDRS motor and lower Total Functional Capacity (TFC) scores than the premanifest group
Summary
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder presenting with progressive motor, cognitive, and neuropsychiatric symptoms [1]. The inadequacy of the motor criterion for clinical diagnosis of HD has recently been addressed by Loy and McCusker. They demonstrated, from a series of cases, the shortcomings of this motor-only diagnostic approach, arguing that both cognitive and psychiatric symptoms should be taken into account when giving a person the clinical diagnosis of HD [8]. Involuntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington’s disease (HD). Despite the fact that neuropsychiatric symptoms and cognitive decline may be early manifestations of HD, the clinical diagnosis is conventionally based on the presence of involuntary movements and a positive genetic test for the HD CAG repeat expansion. After investigating the frequencies of the triad manifestations in a large outpatient clinical cohort of HD gene-expansion carriers, we propose a new clinical classification
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