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.

Publication date: Apr 01, 2019

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.

To describe the HDL2 phenotype and compare it to HD systematically.

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.

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.

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.

Anderson, D.G., Ferreira-Correia, A., Rodrigues, F.B., Aziz, N.A., Carr, J., Wild, E.J., Margolis, R.L., and Krause, A. Comparison of the Huntington’s Disease like 2 and Huntington’s Disease Clinical Phenotypes. 06560. 2019 Mov Disord Clin Pract (6):4.

Concepts Keywords
Chorea Neurological disorders
Cognitive Huntington, West Virginia
Cross Phenocopy
Dementia Dystonia
Dysarthria Chorea
Dystonia Huntington’s disease
Homogeneous Disorders
Huntington Diseases
Oculomotor Dementia chorea
Phenotype
Phenotypes

Semantics

Type Source Name
disease MESH abnormalities
disease MESH disease progression
disease DOID dementia
disease MESH dementia
disease DOID chorea
disease MESH chorea
gene UNIPROT PYCARD
gene UNIPROT TYMS
drug DRUGBANK Tilmicosin
disease DOID dystonia
disease MESH dysarthria
gene UNIPROT JPH3
disease DOID HDL2

Original Article

Leave a Comment

Your email address will not be published. Required fields are marked *