Definitions for neuroacanthocytosis
neu·roa·can·tho·cy·to·sis

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1. Neuroacanthocytosis

   Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN). The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia. The diseases are hereditary but rare.

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1. Neuroacanthocytosis

   Neuroacanthocytosis is a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated red blood cells. These syndromes, which include chorea acanthocytosis, McLeod syndrome, Huntington’s disease–like 2, and pantothenate kinase-associated neurodegeneration, primarily affect the brain and the basal ganglia. The conditions are caused by genetic mutations of several different genes including, VPS13A, XK, JPH3 and PANK2. The mutations are inherited through various genetic mechanisms. Specific neurologic symptoms characterize these diseases. These symptoms may include: involuntary or slow movement; posture and skeletal related abnormalities; weakness; cognitive impairment; psychiatric symptoms; and other symptoms related to brain degeneration and movement difficulties. The disorders all have in common the presence of spiculated red blood cells, also known as spur cells, which are formally called acanthocytes. The diseases are hereditary, but rare, and in some cases extremely rare, with insufficient data to draw conclusions about frequency of the mutation. Huntington's disease-like 2 has slightly higher ethnic prevalence in South Africans and there is gender prevalence in McLeod Syndrome with males being more susceptible to the disease than females. The other two do not show any ethnic or gender bias.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Neuroacanthocytosis

   An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

How to pronounce neuroacanthocytosis?

1. Alex

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   Daniel

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   Tessa

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Numerology

1. Chaldean Numerology

   The numerical value of neuroacanthocytosis in Chaldean Numerology is: 1

2. Pythagorean Numerology

   The numerical value of neuroacanthocytosis in Pythagorean Numerology is: 2

References

1. ^ Wikipedia
   https://en.wikipedia.org/wiki/Neuroacanthocytosis
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=neuroacanthocytosis