Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry

Anderson, David G.; Haagensen, Mark; Ferreira‐Correia, Aline; Pierson, Ronald; Carr, Jonathan; Krause, Amanda; Margolis, Russell L.

doi:10.1016/j.nicl.2019.101666

Cited by 11 publications

(6 citation statements)

References 27 publications

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“…Furthermore, volumetric comparisons between matched HD and HDL2 subject's MRIs have demonstrated remarkable similarities, as expected from previous case series of HDL2 neuroimages. However, an exception of greater thalamic atrophy in HDL2 has been reported in a blinded study for the first time, and could potentially distinguish HDL2 from HD when using quantitative MRI image analysis …”

Section: Introductionmentioning

confidence: 83%

“…However, an exception of greater thalamic atrophy in HDL2 has been reported in a blinded study for the first time, and could potentially distinguish HDL2 from HD when using quantitative MRI image analysis. 18 To compare the HDL2 and HD clinical phenotype systematically, we took advantage of the relatively high prevalence of HDL2 in South Africa. 2 Using standardized rating scales and video examinations by experienced clinicians that were blinded to the patients' genetic diagnosis, we developed a protocol for rating clinical phenotypes.…”

Section: Introductionmentioning

confidence: 99%

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Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes

Anderson

Ferreira‐Correia

Rodrigues

et al. 2019

Movement Disord Clin Pract

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Background Huntington's disease like 2 (HDL2) is the most common Huntington's disease (HD) phenocopy in many countries and described as the phenocopy with the greatest resemblance to HD. The current clinical description of HDL2 is based on retrospective data. It is unknown whether HDL2 has clinical features that distinguish it from HD. Objective To describe the HDL2 phenotype and compare it to HD systematically. Methods A blinded cross‐sectional design was used to compare the HDL2 (n = 15) and HD (n = 13) phenotypes. African ancestry participants underwent assessments, including the Unified Huntington's Disease Rating Scale (UHDRS). The UHDRS motor component was video recorded and evaluated by blinded experts and the inter‐rater reliability calculated. Results Both groups were homogeneous in terms of demographics and disease characteristics. However, HDL2 patients presented three years earlier with more prominent dysarthria and dystonia. Raters could not distinguish between the two diseases with a high level of agreement. No significant differences in the TMS between HDL2 and HD were found. In both disorders, disease duration correlated with motor scores, with the exception of chorea. Psychiatric and cognitive scores were not significantly different between the groups. Conclusions The HDL2 phenotype is similar to HD and is initially characterized by dementia, chorea, and oculomotor abnormalities, progressing to a rigid and bradykinetic state, suggesting the UHDRS is useful to monitor disease progression in HDL2. Although HDL2 patients scored higher on some UHDRS domains, this did not differentiate between the two diseases; it may however be emerging evidence of HDL2 having a more severe clinical phenotype.

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Section: Introductionmentioning

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes

Anderson

Ferreira‐Correia

Rodrigues

et al. 2019

Movement Disord Clin Pract

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“…The HD clinical spectrum has a great clinical resemblance to HD; one recent MRI study compared the difference between HDL2 and HD, showing no significant difference with respect to mean age at MRI, disease duration, abnormal triplet repeat length, or age at disease onset, except the smaller thalamic volumes in the patients with HDL2 (Anderson et al, 2019 ). The general intelligence reflected by MMSE was impaired in the patients with HDL2 and the scores of most case reports were below 24, meeting the diagnostic criteria of dementia (Fischer et al, 2012 ; Vasconcellos et al, 2017 ).…”

Section: Other Reds With Cognitive Dysfunctionmentioning

confidence: 99%

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Zhang

Shen

Jiao

2022

Front. Aging Neurosci.

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With the development of the sequencing technique, more than 40 repeat expansion diseases (REDs) have been identified during the past two decades. Moreover, the clinical features of these diseases show some commonality, and the nervous system, especially the cognitive function was affected in part by these diseases. However, the specific cognitive domains impaired in different diseases were inconsistent. Here, we survey literature on the cognitive consequences of the following disorders presenting cognitive dysfunction and summarizing the pathogenic genes, epidemiology, and different domains affected by these diseases. We found that the cognitive domains affected in neuronal intranuclear inclusion disease (NIID) were widespread including the executive function, memory, information processing speed, attention, visuospatial function, and language. Patients with C9ORF72-frontotemporal dementia (FTD) showed impairment in executive function, memory, language, and visuospatial function. While in Huntington's disease (HD), the executive function, memory, and information processing speed were affected, in the fragile X-associated tremor/ataxia syndrome (FXTAS), executive function, memory, information processing speed, and attention were impaired. Moreover, the spinocerebellar ataxias showed broad damage in almost all the cognitive domains except for the relatively intact language ability. Some other diseases with relatively rare clinical data also indicated cognitive dysfunction, such as myotonic dystrophy type 1 (DM1), progressive myoclonus epilepsy (PME), Friedreich ataxia (FRDA), Huntington disease like-2 (HDL2), and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We drew a cognitive function landscape of the related REDs that might provide an aspect for differential diagnosis through cognitive domains and effective non-specific interventions for these diseases.

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“…Fewer than 100 cases have been reported in the literature worldwide. HDL2 strongly resembles HD clinically, radiologically, and neuropatholo gically [18]. HDL2 is caused by a CAG repeat expansion of the junctophilin-3 (JPH3) gene on chromosome 16q24.2 [17,19].…”

Section: Huntington Disease-like 2 (Hdl2)mentioning

confidence: 99%

Review of Hereditary and Acquired Rare Choreas

Martínez-Ramírez

Walker

Rodríguez-Violante

et al. 2020

Tremor and Other Hyperkinetic Movements

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The first step in diagnosis is recognizing the movement disorder as chorea [1]. Chorea is characterized by irregu lar, purposeless, arrhythmic, nonstereotyped involuntary movements that flow from one body part to another [2]. These movements can affect any part of the body, although usually brief, can also be of long duration, and can have small or large amplitude. Movements with large amplitude localized proximally in the arms are called "ballismus" [3]. Once the movement disorder has been recognized as chorea, we then recommend classifying the age of onset as either childhood (prior to the age of 16) or adultonset [1]. Multiple causes of chorea exist in both age groups, many of which fit in the definition of rare diseases [4]. Since the most common cause of acute chorea in childhood is Sydenham's chorea and of chronic progressive chorea in adults is Huntington's disease (HD), we recommend these disorders should be tested for, as appropriate, and excluded before proceeding to other diagnostic pathways. The next step is to determine, if possible, whether the chorea is hereditary (genetic) or acquired (nongen etic) in nature. The family history should be carefully and

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Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry

Cited by 11 publications

References 27 publications

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Review of Hereditary and Acquired Rare Choreas

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