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Neuroacanthocytosis
Disease definition
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.
ORPHA:263440
Classification level: Group of disorders- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: -
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: D054546
- GARD: 10902
- MedDRA: 10081506
Summary
Epidemiology
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5/1,000,000 for each disorder.
Clinical description
NA syndromes include choreacanthocytosis, McLeod neuroacanthocytosis syndrome, pantothenate-kinase-associated neurodegeneration, and Huntington disease-like 2 (see these terms) which have a Huntington disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Cardiomyopathy including arrhythmias may occur in McLeod syndrome.
Etiology
NA syndromes are caused by disease-specific genetic mutations. The mechanisms by which these mutations cause neurodegeneration are not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway.
Genetic counseling
Choreacanthocytosis follows an autosomal recessive pattern of inheritance, McLeod neuroacanthocytosis syndrome an X-linked pattern, and Huntington disease-like 2 an autosomal dominant pattern.
A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)
Detailed information
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis
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