Dataset Information

Influence of Age of Onset on Huntington's Disease Phenotype.

ABSTRACT: Background:Older patients with Huntington's disease (HD) are often thought to have a slower progressing disease course with less behavioral symptoms than younger patients. However, phenotypic differences based on age of onset have not been well characterized in a large HD population. This study will determine the difference in manifestations and disease progression between patients with young, typical, and late onset adult HD at different stages of disease. Methods:Data obtained from Enroll-HD. Adults with manifest HD were included. Age groups were defined as young onset (YO: 20-29 years), typical onset (TO: 30-59 years), and late onset (LO: 60+ years). Subjects were categorized by TFC score, from Stage I (least severe) to Stage V (most severe). Motor, cognitive, and behavioral symptoms were analyzed. Descriptive statistics and Bonferroni p-value correction for pairwise comparison were calculated. Results:7,311 manifest HD participants were included (612 YO, 5,776 TO, and 923 LO). The average decline in TFC score from baseline to second visit (1.5-2.5 years) was significantly faster for YO (-1.75 points) compared to TO (-1.23 points, p = 0.0105) or LO (-0.97 points, p = 0.0017). Motor deficits were worse for LO participants at early stages of HD, and worse for YO participants at advanced stages. YO and TO participants had greater burden of behavioral symptoms at early stages of disease compared to LO. Discussion:YO is predictive of a faster functional decline for adults with HD when compared to those with TO and LO. Motor and behavioral manifestations differ based on age of onset. Highlights:This study compares HD manifestations while controlling for disease severity, detailing robust phenotypic differences by age of onset alone. These findings have implications for the clinical management of HD symptoms and have the possibility to improve prognostic and treatment precision.

SUBMITTER: Kwa L

PROVIDER: S-EPMC7394225 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Influence of Age of Onset on Huntington's Disease Phenotype.

Kwa Lauren L Larson Danielle D Yeh Chen C Bega Danny D

Tremor and other hyperkinetic movements (New York, N.Y.) 20200709

<h4>Background</h4>Older patients with Huntington's disease (HD) are often thought to have a slower progressing disease course with less behavioral symptoms than younger patients. However, phenotypic differences based on age of onset have not been well characterized in a large HD population. This study will determine the difference in manifestations and disease progression between patients with young, typical, and late onset adult HD at different stages of disease.<h4>Methods</h4>Data obtained f ...[more]

PMID: 32775035

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Project description:Objective: This study aimed to establish (1) the pattern and severity of neuropsychiatric symptoms and other non-motor symptoms of sleep and mood, across ALS phenotypes in comparison to bvFTD and (2) the contribution of non-modifiable factors including age, sex and disease state to the severity of symptoms experienced by ALS patients. Methods: Consecutive participants were recruited to the study and underwent a detailed clinical, cognitive, behavioral and neuroimaging assessment. Neuropsychiatric and other non-motor symptoms were determined using the Cambridge Behavioral Inventory, the CBI-R. The scores were converted to define impairment in terms of mild, moderate and severe symptoms for each subscale. Rate, severity and contribution of King's staging and modifiable factors were also determined and a regression model identified predictors of symptom severity. Results: In total, 250 participants (115 ALS, 98 bvFTD, and 37 ALS-FTD patients) were recruited. A similar pattern of neuropsychiatric symptom severity was identified (apathy, disinhibition and stereotypic behavior) for all behavioral phenotypes of ALS compared to bvFTD (all p > 0.05). Neuropsychiatric symptoms were also present in cases defined as ALSpure and the cognitive phenotype of ALS (ALSci) although they occurred less frequently and were at the milder end of the spectrum. Disordered sleep and disrupted mood were common across all phenotypes (all p < 0.05). The severity of sleep dysfunction was influenced by both sex and age (all p < 0.05). Neuropsychiatric symptoms, sleep and mood disorders were common early in the disease process and deteriorated in line with progression on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R; all p < 0.05). Diagnostic phenotype, disease duration and global cognition scores were the strongest predictors of non-motor and neuropsychiatric impairments. Conclusion: The current findings reveal strikingly similar patterns of changes across the subgroups of ALS and bvFTD, supporting the concept of the ALS-FTD spectrum. The findings further highlight the impact of non-motor and neuropsychiatric symptoms in patients with ALS, that are often as severe as that seen in ALS-FTD and bvFTD. This study advances understanding across the ALS-FTD spectrum that may accelerate the early identification of patient needs, to ensure prompt recognition of symptoms and thereby to improve clinical awareness, patient care and management.

Dataset Information

Influence of Age of Onset on Huntington's Disease Phenotype.

Publications

Influence of Age of Onset on Huntington's Disease Phenotype.

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