About 148 results

ALLMedicine™ Neuroacanthocytosis Center

Research & Reviews  58 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...
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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Clinicaltrials.gov  1 results

Heart and Skeletal Muscle Problems in Neuroacanthocytosis

Mar 4th, 2008 - Neuroacanthocyoses (NA) are rare, closely related clinical syndromes characterized by neurological features and erythrocyte acanthocytosis. Most have a skeletal myopathy as indicated by persistently elevated plasma creatinine kinase, and about 60 ...

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