Examination of Huntington′s disease in a Chinese family

Mu, Yu; Li, Xiaogai; Wu, Shuping; Ji, Shen; Tu, Jiancheng

doi:10.4103/1673-5374.128258

Cited by 3 publications

(2 citation statements)

References 60 publications

(58 reference statements)

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“…Chorea stands as the predominant movement disorder linked to HD; however, some individuals may present with alternative initial symptoms, such as psychiatric manifestations, ataxia, and unorthodox chorea-like motions. HD’s inception encompasses involuntary movement in 47.7% of cases, while psychiatric symptoms contribute to 18.1% (Guo et al ., 2010). During the early stages of HD, patients with subtle clinical indications or those with main clinical symptoms that deviate from the archetypal chorea-like movements pose heightened diagnostic challenges.…”

Section: Discussionmentioning

confidence: 99%

A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations

Lv,

Zhang,

Zhang

et al. 2023

Psychiatric Genetics

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Introduction Huntington’s disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced psychiatric onset symptoms in patients can considerably amplify the intricacies of accurate diagnosis. Case presentation A 43-year-old gentleman was admitted with a five-year chronicle of delusions, hallucinations, and irritability. He had previously received a diagnosis of schizophrenia and had been subjected to a regimen of antipsychotic medications for a span exceeding four years. However, subsequent to the application of cerebral MRI and genetic testing, his condition was conclusively redetermined as HD. Conclusion The salient attribute of this case resides in the deferred diagnosis of HD attributable to the presence of acute psychiatric initial symptoms, a scenario bearing noteworthy ramifications for disease oversight and prognostication. This instance warrants attentive scrutiny and discourse within the professional community.

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Section: Discussionmentioning

confidence: 99%

A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations

Lv,

Zhang,

Zhang

et al. 2023

Psychiatric Genetics

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“…The rewiring of the metabolism by THP-related compounds was associated with a significant reduction of mHtt aggregation in STHdh Q111/111 cells. This last effect is of interest as convincing evidence has demonstrated that decreasing mHtt by many different approaches can rescue HD-associated phenotypes [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity

Cristo¹,

Calarco²,

Digilio³

et al. 2020

IJMS

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A mismatch between β-oxidation and the tricarboxylic acid cycle (TCA) cycle flux in mitochondria produces an accumulation of lipid metabolic intermediates, resulting in both blunted metabolic flexibility and decreased glucose utilization in the affected cells. The ability of the cell to switch to glucose as an energy substrate can be restored by reducing the reliance of the cell on fatty acid oxidation. The inhibition of the carnitine system, limiting the carnitine shuttle to the oxidation of lipids in the mitochondria, allows cells to develop a high plasticity to metabolic rewiring with a decrease in fatty acid oxidation and a parallel increase in glucose oxidation. We found that 3-(2,2,2-trimethylhydrazine)propionate (THP), which is able to reduce cellular carnitine levels by blocking both carnitine biosynthesis and the cell membrane carnitine/organic cation transporter (OCTN2), was reported to improve mitochondrial dysfunction in several diseases, such as Huntington’s disease (HD). Here, new THP-derived carnitine-lowering agents (TCL), characterized by a high affinity for the OCTN2 with a minimal effect on carnitine synthesis, were developed, and their biological activities were evaluated in both in vitro and in vivo HD models. Certain compounds showed promising biological activities: reducing protein aggregates in HD cells, ameliorating motility defects, and increasing the lifespan of HD Drosophila melanogaster.

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Clinical and genetic investigation of a Brazilian family with Huntington�s disease

Agostinho¹

2016

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SummaryThe aim of this study was to investigate a Brazilian family carrying full penetrance alleles for Huntington's disease (HD) in order to correlate each member's genetic and clinical features. To this end, the following scales were administered in each patient: the Beck Depression Inventory, the Mini-Mental State Examination (MMSE) and the Unified Huntington's Disease Rating Scale (UHDRS). The patterns of CAG and CCG polymorphic regions in the HTT gene were determined, the disease burden score was calculated, and genotypes were correlated with phenotypes within this family. We suggest that HD duration, the number of years of formal education, and UHDRS status variables can explain 96.6% of the MMSE variability in HD patients. A strong significant correlation was found between the disease burden score and the UHDRS (r = 0.76; p-value = 0.049) and the MMSE (r = −0.90; p-value = 0.006). The correlations between CAG allele size and the three clinical evaluations performed in the HD patients were not statistically significant.

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Examination of Huntington′s disease in a Chinese family

Cited by 3 publications

References 60 publications

A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations

A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations

The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity

Clinical and genetic investigation of a Brazilian family with Huntington�s disease

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