About 140 results

ALLMedicine™ Neuroacanthocytosis Center

Research & Reviews  56 results

Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf

Apr 21st, 2022 - Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacteri...

Two case reports of chorea-acanthocytosis and review of literature.
European Journal of Medical Research; Huang S, Zhang J et. al.

Feb 9th, 2022 - Chorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms. It is thought to be caused by the VPS13A (vacuolar protein sorting-associated pro...

Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Rep...
Laboratory Medicine; Kim A, Chae HY et. al.

Jan 26th, 2022 - Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants of the vacuolar protein sorting 13A (VPS13A). Only a few patients with ChAc have been reported to date, and the variant spectrum of...

McLeod Neuroacanthocytosis Syndrome - GeneReviews® - NCBI Bookshelf

Sep 16th, 2021 - McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males:

Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syn...
https://doi.org/10.1097/WNN.0000000000000267 10.1002/mds.23605 10.1002/ana.10035 10.1002/mds.1188 10.1212/WNL.44.1.117 10.1038/s41431-018-0248-6 10.1186/s40734-017-0056-0 10.1002/mds.23843 10.1136/bcr-2013-202785 10.1002/mds.21536 10.1002/mds.25224 10.17340/jkna.2017.2.4 10.1001/jamaneurol.2018.2166 10.1111/j.1468-1331.2009.02872.x 10.1136/jnnp.74.12.1697 10.14802/jmd.15009
Cognitive and Behavioral Neurology : Official Journal of ... Ryu HS, Hong CM

Sep 3rd, 2021 - McLeod syndrome is a rare X-linked recessive genetic disorder that is caused by mutations of the XK gene. It is one of the core neuroacanthocytosis syndromes. We report the case of a 67-year-old man who presented to Kyungpook National University H...

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