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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Acanthocytes Identified in Huntington's Disease.

Yueyi Yu1, Yuanyuan Lu1, Fen Wang1

  • 1Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Frontiers in Neuroscience
|June 23, 2022
PubMed
Summary

Huntington's disease (HD) can co-occur with acanthocytosis, a condition typically associated with neuroacanthocytosis. This finding expands the known clinical spectrum of HD, revealing potential peripheral manifestations.

Keywords:
Huntington’s disease (HD)acanthocytesmicroscopy electron scanningmovement disorderpathology

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Area of Science:

  • Neuroscience
  • Genetics
  • Hematology

Background:

  • Neuroacanthocytosis (NA) and Huntington's disease (HD) are distinct neurodegenerative disorders.
  • Both conditions share clinical and imaging similarities, complicating differential diagnosis.
  • Acanthocytes in peripheral blood typically indicate NA, aiding diagnosis.

Purpose of the Study:

  • To investigate the co-occurrence of acanthocytosis in patients diagnosed with Huntington's disease.
  • To characterize the clinical and genetic features of HD patients presenting with acanthocytosis.

Main Methods:

  • Retrospective analysis of 40 Huntington's disease patients (2014-2022).
  • Screening of peripheral blood erythrocytes using scanning electron microscopy.
  • Genetic analysis including HTT gene sequencing and whole-exome sequencing.

Main Results:

  • Four out of 40 HD patients exhibited acanthocytosis.
  • Patients were unrelated Han Chinese adults (45-61 years) with typical HD symptoms.
  • Acanthocyte proportions ranged from mild (6-10%) to high (>20%).
  • Genetic analysis confirmed HTT gene expansion in all patients.

Conclusions:

  • Huntington's disease can present with concurrent acanthocytosis.
  • This co-occurrence broadens the clinical phenotype of HD.
  • HD may involve peripheral defects alongside primary brain pathology.