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What do we know about Late Onset Huntington's Disease?
Sai S Chaganti1,2, Elizabeth A McCusker1,2, Clement T Loy1,3,4
1Huntington Disease Service, Westmead Hospital, Sydney, Australia.
Insights
Late onset Huntington's disease (LoHD) affects 4.4-11.5% of individuals and can be missed due to atypical presentation. LoHD may present with non-motor symptoms and have a slower progression, impacting diagnosis.
Area of Science:
- Neurology
- Genetics
- Epidemiology
Background:
- Huntington's disease (HD) typically manifests in the fourth decade.
- Late onset Huntington's disease (LoHD), defined as onset over 60 years, accounts for 4.4-11.5% of HD cases.
- Diagnosis of LoHD can be challenging due to its lower perceived prevalence in older adults.
Purpose of the Study:
- To review the epidemiology, genotype, and phenotype of Late onset Huntington's disease (LoHD).
Main Methods:
- Systematic literature search of MEDLINE, EMBASE, and Web of Science databases (inception-November 2016).
- Inclusion of studies reporting clinical phenotype of LoHD for more than one participant.
- Consultation with content experts for additional studies.
Main Results:
- 20 studies were identified, revealing LoHD constitutes a significant proportion of HD cases, potentially increasing.
- CAG repeat lengths in LoHD are typically ≤44, with variable family history presentation (3-68%).
- While motor symptoms are common, 29.2% of cases present with non-motor features; cognitive impairment may be a primary source of disability, and progression may be slower.
Conclusions:
- Late onset Huntington's disease (LoHD) represents a substantial portion of new HD diagnoses and exhibits unique characteristics.
- Further research into LoHD populations is crucial for improving clinical diagnosis and management.
Background:
Although the typical age of onset for Huntington's disease (HD) is in the fourth decade, between 4.4-11.5% of individuals with HD have a late onset (over 60 years of age). Diagnosis of Late onset HD (LoHD) can be missed, due to the perceived low likelihood of HD in the over 60-year-olds.
Objective:
To review the epidemiology, genotype and phenotype of LoHD.
Methods:
We systematically searched MEDLINE, EMBASE and Web of Science (inception-November 2016). Web of Science was then used to search for papers citing identified studies. Content experts were consulted for any additional studies. We included all studies reporting the clinical phenotype of LoHD for more than one participant.
Results:
20 studies were identified from a potential list of 1243. Among Caucasian HD cohorts, 4.4-11.5% of individuals have LoHD, and this proportion may be increasing. Proportion of LoHD without a positive family history ranges from 3-68%. 94.4% of reported cases of LoHD had CAG repeat lengths of ≤44. Motor manifestations are the commonest initial presentation, although 29.2% presented with non-motor manifestations as the first clinical feature in one case series. Individuals with LoHD may have slower progression of illness. Cognitive impairment rather than chorea may be the major source of disability in this group.
Conclusions:
LoHD represents a substantial proportion of new diagnoses of HD and has some unique features. Further characterization of this population will aid clinicians in diagnosis.
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