scholarly journals Clinical severity of Huntington's disease does not always correlate with neuropathologic stage

2012 ◽  
Vol 27 (9) ◽  
pp. 1099-1103 ◽  
Author(s):  
Jagan A. Pillai ◽  
Lawrence A. Hansen ◽  
Eliezer Masliah ◽  
Jody L. Goldstein ◽  
Steven D. Edland ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Severity

scholarly journals Huntington's Disease: Two-Year Observational Follow-Up of Executive Function Evaluation with CNS Vital Signs Test in an Adult Patient

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Anna Lucia Spear King ◽  
Alexandre Martins Valença ◽  
Adriana Cardoso de Oliveira e Silva ◽  
Ana Claudia Cerqueira ◽  
Lígia Maria Chaves Ferraz ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Vital Signs ◽  
Clinical Severity ◽  
Psychomotor Development ◽  
Cognitive State ◽  
Evolutionary Stage ◽  
Medication Therapy

Huntington's disease (HD) is a genetic, degenerative, and progressive central nervous system disease. It is characterized by motor abnormalities and cognitive and psychiatric symptoms.Objective. To describe the precise degree of clinical severity of patients with HD through a new neurocognitive assessment.Methods. Unprecedented battery of computerized tests, CNSVS (Central Nervous System Vital Signs), was applied at three different moments in 2008, 2009, and 2010. The accurate and reliable CNSVS objectively provided the cognitive state of patients and allowed for the evaluation of disease progression.Case Report. P., 26, female, without any medication, with normal psychomotor development is a parent carrier of HD. In 2008, she was diagnosed with HD in accordance with the Medical Genetics Laboratories.Conclusion. The tests may be useful to reveal the exact measure of the current evolutionary stage of HD patients, allowing for more efficient planning of treatment and future procedures, such as the medication, therapy, and physical activity to be administered.

scholarly journals Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Huajing You ◽  
Tengteng Wu ◽  
Gang Du ◽  
Yue Huang ◽  
Yixuan Zeng ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Burden ◽  
Rating Scale ◽  
Word Reading ◽  
Acidic Protein ◽  
Clinical Severity ◽  
Healthy Controls ◽  
Mutation Carriers

Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical severity of HD but relative data are the lack in the Chinese population. Reactive astrocytes are related to HD pathology, which predicts their potential to be a biomarker in HD progression. Our aim was to discuss the role of blood glial fibrillary acidic protein (GFAP) to evaluate clinical severity in patients with HD.Methods: Fifty-seven HD mutation carriers (15 premanifest HD, preHD, and 42 manifest HD) and 26 healthy controls were recruited. Demographic data and clinical severity assessed with the internationally Unified Huntington's Disease Rating Scale (UHDRS) were retrospectively analyzed. Plasma NfL and GFAP were quantified with an ultra-sensitive single-molecule (Simoa, Norcross, GA, USA) technology. We explored their consistency and their correlation with clinical severity.Results: Compared with healthy controls, plasma NfL (p < 0.0001) and GFAP (p < 0.001) were increased in Chinese HD mutation carriers, and they were linearly correlated with each other (r = 0.612, p < 0.001). They were also significantly correlated with disease burden, Total Motor Score (TMS) and Total Functional Capacity (TFC). The scores of Stroop word reading, symbol digit modalities tests, and short version of the Problem Behaviors Assessments (PBAs) for HD were correlated with plasma NfL but not GFAP. Compared with healthy controls, plasma NfL has been increased since stage 1 but plasma GFAP began to increase statistically in stage 2.Conclusions: Plasma GFAP was correlated with plasma NfL, disease burden, TMS, and TFC in HD mutation carriers. Plasma GFAP may have potential to be a sensitive biomarker for evaluating HD progression.

scholarly journals Cerebrospinal Fluid Inflammatory Biomarkers Reflect Clinical Severity in Huntington’s Disease

PLoS ONE ◽  
2016 ◽  
Vol 11 (9) ◽  
pp. e0163479 ◽  
Author(s):  
Filipe Brogueira Rodrigues ◽  
Lauren M. Byrne ◽  
Peter McColgan ◽  
Nicola Robertson ◽  
Sarah J. Tabrizi ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Severity ◽  
Inflammatory Biomarkers

scholarly journals Interaction between sex and neurofilament light chain on brain structure and clinical severity in Huntington’s disease

2021 ◽  
Author(s):  
Frederic Sampedro ◽  
Saul Martinez‐Horta ◽  
Jesús Pérez‐Pérez ◽  
Rocio Perez‐Gonzalez ◽  
Andrea Horta‐Barba ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Light Chain ◽  
Brain Structure ◽  
Clinical Severity ◽  
Neurofilament Light Chain ◽  
Neurofilament Light

Growth hormone and ghrelin secretion are associated with clinical severity in Huntington’s disease

2009 ◽  
Vol 17 (2) ◽  
pp. 280-288 ◽  
Author(s):  
N. A. Aziz ◽  
H. Pijl ◽  
M. Frölich ◽  
J. P. Schröder-van der Elst ◽  
C. Van Der Bent ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Severity ◽  
Ghrelin Secretion

scholarly journals Cerebrospinal fluid endo-lysosomal proteins as potential biomarkers for Huntington’s disease

2020 ◽  
Author(s):  
Alexander J. Lowe ◽  
Simon Sjodin ◽  
Filipe B. Rodrigues ◽  
Lauren M. Byrne ◽  
Kaj Blennow ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Word Reading ◽  
Clinical Severity ◽  
Mass Spectrometry Analysis ◽  
Disease Stage ◽  
Significant Difference ◽  
Lysosomal Proteins

AbstractMolecular markers derived from cerebrospinal fluid (CSF) represent an accessible means of exploring the pathobiology of Huntington’s disease (HD) in vivo. The endo-lysosomal/autophagy system is dysfunctional in HD, potentially contributing to disease pathogenesis and representing a potential target for therapeutic intervention. Several endo-lysosomal proteins have shown promise as biomarkers in other neurodegenerative diseases; however, they have yet to be fully explored in HD. We performed parallel reaction monitoring mass spectrometry analysis (PRM-MS) of multiple endo-lysosomal proteins in the CSF of 60 HD mutation carriers and 20 healthy controls. Using generalised linear models controlling for age and CAG, none of the 18 proteins measured displayed significant differences in concentration between HD patients and controls. This was affirmed by principal component analysis, in which no significant difference across disease stage was found in any of the three components representing lysosomal hydrolases, binding/transfer proteins and innate immune system/peripheral proteins. However, several proteins were associated with measures of disease severity and cognition: most notably amyloid precursor protein, which displayed strong correlations with composite Unified Huntington’s Disease Rating Scale, UHDRS Total Functional Capacity, UHDRS Total Motor Score, Symbol Digit Modalities Test and Stroop Word Reading. We conclude that although endo-lysosomal proteins are unlikely to have value as disease state CSF biomarkers for Huntington’s disease, several proteins demonstrate associations with clinical severity, thus warranting further, targeted exploration and validation in larger, longitudinal samples.

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