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neuroacanthocytosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuroacanthocytosis

MONDO:0016987

Also known as:neuroacanthocytosis syndrome

Overview

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.

Patient Orgs2 organizations · Advocacy for Neuroacanthocytosis Patients, Neuroacanthocytosis Advocacy USA, Inc.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

McLeod neuroacanthocytosis syndrome (MLS) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males. Heterozygous females have mosaicism for the Kell and Kx blood group antigens but usually lack CNS and neuromuscular manifestations; however, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The diagnosis of McLeod neuroacanthocytosis syndrome (MLS) should be suspected/considered in an individual with the following clinical and laboratory findings and family history.

CNS Manifestations

Clinical findings

Progressive chorea syndrome, which also can be part of a clinical triad of movement disorders, cognitive alterations, and psychiatric symptoms ("Huntington-like syndrome")

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for neuroacanthocytosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with McLeod neuroacanthocytosis syndrome (MLS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with McLeod Neuroacanthocytosis Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with McLeod Neuroacanthocytosis Syndrome

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuroacanthocytosis.

44 publications have been identified in PubMed for neuroacanthocytosis. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	21	48%

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 6:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Advocacy for Neuroacanthocytosis PatientsPrimary Focus

USWebsite ↗

Neuroacanthocytosis Advocacy USA, Inc.Primary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:263440

GARD

Genetic and Rare Diseases Info Center

GARD:10902

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Advocacy for Neuroacanthocytosis Patients and other patient organizations for support?

← Back to All Diseases

System/Concern	Evaluation	Comment
Neurologic	For movement disorder	Choreiform mvmts; head drop; Apply UHDRS perform brain MRI. For seizures
Cognitive	To incl motor, speech/language eval, general cognitive skills	Executive deficits; Perform formal neuropsychological eval /or Montreal cognitive assessment.
Psychiatric	For frontal-type deficits: personality disorder, anxiety, depression, OCD, bipolar disorder, schizo-affective disorder	Perform standardized psychiatric assessment; eval of symptom-oriented psychotherapeutic psychopharmacologic interventions.; Contact w/patient advocacy org may provide addl benefit.2
Feeding	Feeding/nutritional assessment	Feeding dystonia; Consider clinical /or fiberoptic feeding eval
Cardiac	Dilated cardiomyopathy, atrial fibrillation, tachyarrhythmia	Usually develop over time1; Perform echocardiography, Holter EKG, cardiac biomarker analysis (e.g., Troponin T/I, pro-BNP).; If available, perform cardiac MRI electrophysiologic investigations. Hematologic
Liver	Abdominal ultrasound exam	Screening for hepatosplenomegaly
Genetic counseling	By genetics professionals4	To inform patients families re nature, MOI, implications of MLS in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with McLeod Neuroacanthocytosis Syndrome Manifestation/Concern	Treatment	Considerations/Other Chorea
Seizures	Anti-seizure medication1	Avoid long-term use of benzodiazepines because of possible negative effect on neuromuscular system. Neuromuscular
Cognitive	Cognitive training is probably rarely indicated.	Consider counseling as needed based on daily living /or work-related requirements, incl job alternatives.
Psychiatric	Standard treatment based on manifestation	Extended continuous multidisciplinary psychosocial support for affected persons families
Cardiac	Standard treatment based on clinical /or EKG presentation	Consider: placement of prophylactic cardiac pacemaker/implantable cardioverter-defibrillator; heart transplant
Hematologic	Avoid transfusion of Kx+ homologous blood products.	Avoid repetitive blood transfusions.; Consider cryopreservation of autologous or homologous blood for future use. Family support
resources	Eval of needs every visit involvement of respective local services when needed	Advocacy groups for neuroacanthocytosis in Europe US may support affected persons their caregivers. EKG = electrocardiogram; PT = physical therapy 1.

Kisho

neuroacanthocytosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

VPS13A

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

neuroacanthocytosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

VPS13A

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications