Levine-Critchley syndrome; neuroacanthocytosis; choreoacanthyocytosis
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Epidemiology
onset 23-59 years
Pathology
atrophy of caudate and putamen
Genetics
- autosomal recessive mostly
- associated with mutations in chorein gene
Clinical manifestations
- neurologic/behavioral:
- choreoathetosis, progressive
- orofacial dyskinesia
- hyporeflexia
- dysarthria
- seizure
- dementia
- personality change
- peripheral sensory neuropathy
- oral self-mutilation
- hematologic
Differential diagnosis
More general terms
References
- ↑ OMIM 200150
- ↑ National Institute of Neurological Disorders and Stroke (NINDS)
Levine-Critchley Syndrome Information Page https://www.ninds.nih.gov/disorders/all-disorders/levine-critchley-syndrome-information-page
NINDS Neuroacanthocytosis Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Neuroacanthocytosis-Information-Page
Patient information
Levine-Critchley syndrome (neuroacanthocytosis) patient information