Huntington's Disease like 2 presenting with isolated Parkinsonism

Vasconcellos, Luiz Felipe Rocha; Macêdo, Philippe Joaquim Oliveira Menezes; Franck, Jéssyca Botelho; Tumas, Vítor; Júnior, Wilson Marques; Spitz, Mariana

doi:10.1016/j.jns.2016.11.050

Cited by 10 publications

(5 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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 ). But its neurocognitive characterization is poorly researched systematically.…”

Section: Other Reds With Cognitive Dysfunctionmentioning

confidence: 85%

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Zhang

Shen

Jiao

2022

Front. Aging Neurosci.

View full text Add to dashboard Cite

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.

show abstract

Section: Other Reds With Cognitive Dysfunctionmentioning

confidence: 85%

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Zhang

Shen

Jiao

2022

Front. Aging Neurosci.

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

“…Huntington's disease often begins with chorea. HD sometimes initiates with conditions like parkinsonian phenotype, ataxia, and dystonia, 1 and it is demonstrated that longer CAG expansions are associated with this situation in the early stages of the disease, 3 as well as earlier age at onset. 1 Though chorea is the typical feature in HD patients demonstrating in early to middle ages, chorea may be absent in late-onset HD, generally in patients with lower CAG repetition, which commonly leads to a misdiagnosis, mainly if the genetic risk is unidentified, and disease progression is usually slower in these late manifesting patients.…”

Section: Discussionmentioning

confidence: 99%

Atypical parkinsonism can be a presenting feature of late‐onset Huntington's disease

Salari

Moghadam

Soleimani

et al. 2022

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…Descriptions of the HDL2 phenotype have consisted of small case series with limited detailed documentation of particular clinical signs being either present or absent. To date, there have been only three reports where the Unified Huntington's Disease Rating Scale (UHDRS) was used to assess HDL2 patients . Therefore, the current understanding of the HDL2 phenotype remains incomplete .…”

Section: Introductionmentioning

confidence: 99%

“…To date, there have been only three reports where the Unified Huntington's Disease Rating Scale (UHDRS) was used to assess HDL2 patients. 5,11,16 Therefore, the current understanding of the HDL2 phenotype remains incomplete. 12 Systematic examination of specific phenotypic features has yielded findings that were not consistent with initial reports.…”

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

View full text Add to dashboard Cite

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.

show abstract

Huntington's Disease like 2 presenting with isolated Parkinsonism

Cited by 10 publications

References 5 publications

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

Atypical parkinsonism can be a presenting feature of late‐onset Huntington's disease

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

Contact Info

Product

Resources

About