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. 2022 Jun 6:16:913401.
doi: 10.3389/fnins.2022.913401. eCollection 2022.

Acanthocytes Identified in Huntington's Disease

Yueyi Yu  1 , Yuanyuan Lu  1 , Fen Wang  1 , Yan Lu  1 , Beijia Xie  1 , Xiaosheng Meng  2 , Yi Tang  1
Affiliations

Acanthocytes Identified in Huntington's Disease

Yueyi Yu et al. Front Neurosci. .

Abstract

Background: Neuroacanthocytosis (NA) and Huntington's disease (HD) are neurodegenerative conditions that share clinical symptoms and imaging findings, despite their distinct genetic etiologies. Usually, the presence of acanthocytes can help narrow the differential diagnosis of a familial choreiform disorder, as the diagnosis of NA syndrome is supported by the presence of acanthocytes in peripheral blood. In this study, we demonstrate four patients who present with HD and acanthocytosis.

Methods: We retrieved the data of 40 HD patients with fresh peripheral blood screened for erythrocytes in our hospital from 2014 to 2022. Of these 40 patients, four patients with acanthocytes were recruited for this study. Patients' investigations included clinical and laboratory studies, HTT gene sequencing, and whole-exome sequencing. Fresh peripheral blood was screened for erythrocytes by scanning electron microscopy.

Results: The four adult patients were Han Chinese and unrelated. The age ranged from 45 to 61 years, with a disease duration of 4-10 years. The main neurological features at diagnosis included progressive involuntary movements, psychiatric changes, and dementia. Genetic analysis showed an expansion at the HTT gene. The mean proportion of acanthocytes was mild (6-10%) elevated in patient one and high (>20%) elevated in patients 2-4 by scanning electron microscopy examination.

Conclusion: Our study illustrates that HD can combine with acanthocytosis, which may expand the clinical phenotype. Even though the primary gene defect appears to be predominately directed at the brain, a peripheral defect can be seen in HD. Our study highlights the complexity and diversity of HD.

Keywords: Huntington’s disease (HD); acanthocytes; microscopy electron scanning; movement disorder; pathology.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Examination of peripheral blood of our patients by scanning electron microscopy showing acanthocytosis. (A) Patient 1, (B) Patient 2, (C) Patient 3, (D) Patient 4, magnification: ×1800.
See this image and copyright information in PMC

Comment in

  • Commentary: Acanthocytes identified in Huntington's disease.
    Peikert K, Storch A, Hermann A, Landwehrmeyer GB, Walker RH, Simionato G, Kaestner L, Danek A. Peikert K, et al. Front Neurosci. 2022 Nov 4;16:1049676. doi: 10.3389/fnins.2022.1049676. eCollection 2022. Front Neurosci. 2022. PMID: 36408380 Free PMC article. No abstract available.

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  • Commentary: Acanthocytes identified in Huntington's disease.
    Peikert K, Storch A, Hermann A, Landwehrmeyer GB, Walker RH, Simionato G, Kaestner L, Danek A. Peikert K, et al. Front Neurosci. 2022 Nov 4;16:1049676. doi: 10.3389/fnins.2022.1049676. eCollection 2022. Front Neurosci. 2022. PMID: 36408380 Free PMC article. No abstract available.

References

    1. Beverstock G. C. (1984). The current state of research with peripheral tissues in Huntington disease. Hum. Genet. 66 115–131. - PubMed
    1. Chen C. M., Wu Y. R., Cheng M. L., Liu J. L., Lee Y. M., Lee P. W., et al. (2007). Increased oxidative damage and mitochondrial abnormalities in the peripheral blood of Huntington’s disease patients. Biochem. Biophys. Res. Commun. 359 335–340. 10.1016/j.bbrc.2007.05.093 - DOI - PubMed
    1. Ciccoli L., De Felice C., Paccagnini E., Leoncini S., Pecorelli A., Signorini C., et al. (2013). Erythrocyte shape abnormalities, membrane oxidative damage, and β-actin alterations: an unrecognized triad in classical autism. Mediat. Inflamm. 2013:432616. 10.1155/2013/432616 - DOI - PMC - PubMed
    1. Disease Collaborative Research Group. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72 971–983. - PubMed
    1. Dong Y., Sun Y. M., Liu Z. J., Ni W., Shi S. S., Wu Z. Y. (2013). Chinese patients with Huntington’s disease initially presenting with spinocerebellar ataxia. Clin. Genet. 83 380–383. 10.1111/j.1399-0004.2012.01927.x - DOI - PubMed

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