Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease

doi:10.7916/D81J9PDX

Comparative Study

. 2017 Dec 5:7:512.

doi: 10.7916/D81J9PDX. eCollection 2017.

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease

David G Anderson^{1

2}, Sergio Carmona³, Kubendran Naidoo³, Theresa L Coetzer³, Jonathan Carr⁴, Dobrila D Rudnicki^{5

6}, Ruth H Walker^{7

8}, Russell L Margolis⁹, Amanda Krause^{2

10}

Affiliations

¹ Department of Neurology, The University of the Witwatersrand Donald Gordon Medical Center, Johannesburg, South Africa.
² Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa.
³ Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
⁴ Department of Neurology, University of Stellenbosch, Cape Town, South Africa.
⁵ Office of Special Initiatives, National Center for Advancing Translational Sciences, NIH, Bethesda, MD, USA.
⁶ Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁷ Department of Neurology, James J. Peters Veterans Affairs Medical Center, New York, NY, USA.
⁸ Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA.
⁹ Departments of Psychiatry and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
¹⁰ Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.

PMID: 29226019
PMCID: PMC5721130
DOI: 10.7916/D81J9PDX

Comparative Study

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease

David G Anderson et al. Tremor Other Hyperkinet Mov (N Y). 2017.

. 2017 Dec 5:7:512.

doi: 10.7916/D81J9PDX. eCollection 2017.

Authors

David G Anderson^{1

2}, Sergio Carmona³, Kubendran Naidoo³, Theresa L Coetzer³, Jonathan Carr⁴, Dobrila D Rudnicki^{5

6}, Ruth H Walker^{7

8}, Russell L Margolis⁹, Amanda Krause^{2

10}

Affiliations

¹ Department of Neurology, The University of the Witwatersrand Donald Gordon Medical Center, Johannesburg, South Africa.
² Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa.
³ Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
⁴ Department of Neurology, University of Stellenbosch, Cape Town, South Africa.
⁵ Office of Special Initiatives, National Center for Advancing Translational Sciences, NIH, Bethesda, MD, USA.
⁶ Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁷ Department of Neurology, James J. Peters Veterans Affairs Medical Center, New York, NY, USA.
⁸ Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA.
⁹ Departments of Psychiatry and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
¹⁰ Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.

PMID: 29226019
PMCID: PMC5721130
DOI: 10.7916/D81J9PDX

Abstract

Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD).

Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers. An acanthocytosis rate of greater than 1.2% in the dry smear or greater than 3.7% in the wet smear was designated a priori as the threshold for clinical significance based on previously established standards. Flow cytometry was performed on all but four of the cases. Red cell membrane protein analysis was performed on all participants.

Results: There were 12 HDL2, 13 HD, and 21 controls enrolled. None of the HD or HDL2 participants had defined acanthocytosis or other morphological abnormalities. None of the HD or HDL2 cases had evidence of an abnormal band 3.

Discussion: Acanthocytosis was not identified in either HDL2 or HD in our patient population. Our results, based on the first prospective study of acanthocytes in HDL2 or HD, suggest that screening for acanthocytes will not help establish the diagnosis of HD or HDL2, nor differentiate between the two disorders and raises the question if HDL2 should be placed within the neuroacanthocytosis syndromes.

Keywords: Huntington’s disease; Huntington’s disease-like 2; acanthocytes; chorea.

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Conflict of interest statement

Funding: None. Conflicts of Interest: The authors report no conflicts of interest. Ethics Statement: This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. The authors’ institutional ethics committee has approved this study and all patients have provided written informed consent.

Cited by

Neuroacanthocytosis Syndromes: The Clinical Perspective.
Walker RH, Peikert K, Jung HH, Hermann A, Danek A. Walker RH, et al. Contact (Thousand Oaks). 2023 Dec 10;6:25152564231210339. doi: 10.1177/25152564231210339. eCollection 2023 Jan-Dec. Contact (Thousand Oaks). 2023. PMID: 38090146 Free PMC article. Review.
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.
"Neuroacanthocytosis" - Overdue for a Taxonomic Update.
Walker RH, Danek A. Walker RH, et al. Tremor Other Hyperkinet Mov (N Y). 2021 Jan 11;11:1. doi: 10.5334/tohm.583. Tremor Other Hyperkinet Mov (N Y). 2021. PMID: 33510935 Free PMC article.
Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.
Anderson DG, Ferreira-Correia A, Rodrigues FB, Aziz NA, Carr J, Wild EJ, Margolis RL, Krause A. Anderson DG, et al. Mov Disord Clin Pract. 2019 Mar 12;6(4):302-311. doi: 10.1002/mdc3.12742. eCollection 2019 Apr. Mov Disord Clin Pract. 2019. PMID: 31061838 Free PMC article.
Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.
Anderson DG, Haagensen M, Ferreira-Correia A, Pierson R, Carr J, Krause A, Margolis RL. Anderson DG, et al. Neuroimage Clin. 2019;21:101666. doi: 10.1016/j.nicl.2019.101666. Epub 2019 Jan 7. Neuroimage Clin. 2019. PMID: 30682531 Free PMC article.

References

1. Holmes SE, O’Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377–378. doi: 10.1038/ng760. - DOI - PubMed
1. Margolis RL, O’Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, et al. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion. Ann Neurol. 2001;50:373–380. doi: 10.1002/ana.1312. - DOI - PubMed
1. Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A, et al. A systematic review of the Huntington disease-like 2 phenotype. J Huntington’s Dis. 2017;6:37–46. doi: 10.3233/JHD-160232. - DOI - PubMed
1. Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology. 2002;58:1031–1037. doi: 10.1212/WNL.58.7.1031. - DOI - PubMed
1. Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, et al. Huntington’s disease-like 2 can present as chorea-acanthocytosis. Neurology. 2003;61:1002–1004. doi: 10.1212/01.WNL.0000085866.68470.6D. - DOI - PubMed

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[1] Holmes SE, O’Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377–378. doi: 10.1038/ng760. - DOI - PubMed

[2] Holmes SE, O’Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377–378. doi: 10.1038/ng760. - DOI - PubMed

[3] Margolis RL, O’Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, et al. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion. Ann Neurol. 2001;50:373–380. doi: 10.1002/ana.1312. - DOI - PubMed

[4] Margolis RL, O’Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, et al. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion. Ann Neurol. 2001;50:373–380. doi: 10.1002/ana.1312. - DOI - PubMed

[5] Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A, et al. A systematic review of the Huntington disease-like 2 phenotype. J Huntington’s Dis. 2017;6:37–46. doi: 10.3233/JHD-160232. - DOI - PubMed

[6] Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A, et al. A systematic review of the Huntington disease-like 2 phenotype. J Huntington’s Dis. 2017;6:37–46. doi: 10.3233/JHD-160232. - DOI - PubMed

[7] Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology. 2002;58:1031–1037. doi: 10.1212/WNL.58.7.1031. - DOI - PubMed

[8] Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology. 2002;58:1031–1037. doi: 10.1212/WNL.58.7.1031. - DOI - PubMed

[9] Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, et al. Huntington’s disease-like 2 can present as chorea-acanthocytosis. Neurology. 2003;61:1002–1004. doi: 10.1212/01.WNL.0000085866.68470.6D. - DOI - PubMed

[10] Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, et al. Huntington’s disease-like 2 can present as chorea-acanthocytosis. Neurology. 2003;61:1002–1004. doi: 10.1212/01.WNL.0000085866.68470.6D. - DOI - PubMed

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Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease

Affiliations

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease

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