Loading...
Thumbnail Image
Publication

Neuroacanthocytosis

Feriante, Joshua
Gupta, Vikas
Citations
Altmetric:
Student Authors
Faculty Advisor
Academic Program
UMass Chan Affiliations
Document Type
Book Chapter
Publication Date
2020-10-05
Subject Area
Embargo Expiration Date
Abstract

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline.[1] The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures.[2] Specific diseases are many, including chorea-acanthocytosis (ChAc),[3] McLeod syndrome (MLS),[4] Huntington like-disease 2 (HDL2),[5] pantothenate kinase-associated neurodegeneration (PKAN, also known as Hallervorden Spatz disease),[6][7] HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL),[8] hereditary hypobetalipoproteinemia (HHBL),[9] and aceruloplasminemia.[10][11] The two core conditions are chorea-acanthocytosis and McLeod Syndrome. Each neuroacanthocytosis disorder is extremely rare, with a prevalence of less than 1 to 3 per 1,000,000 individuals for PKAN or fewer than 100 cases ever reported in the case of ABL.

Source

Feriante J, Gupta V. Neuroacanthocytosis. 2020 Oct 5. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan–. PMID: 32809602. Link to book chapter in PMC

Year of Medical School at Time of Visit
Sponsors
Dates of Travel
DOI
PubMed ID
32809602
Other Identifiers
Notes
Funding and Acknowledgements
Corresponding Author
Related Resources
Repository Citation
Rights
Copyright © 2020, StatPearls Publishing LLC. This book is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits use, duplication, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, a link is provided to the Creative Commons license, and any changes made are indicated.