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Neuroacanthocytosis
Boekbijdrage - Hoofdstuk
Definition and History
The term acanthocyte derives from the Greek "acanthos" meaning "thorn". Acanthocytes or spur cells are spiculated red cells with a few projections of varying size and surface distribution. The cells appear contracted, dense, and irregular. In general, the formation of acanthocytes depends on alteration of the lipid composition and fluidity of the red cell membrane. Up to 3% acanthocytes in the peripheral blood smear may be considered normal; ranges beyond this are often associated with disease.
Neuroacanthocytosis syndromes form a genetically heterogeneous group of disorders characterized by the association of neurological abnormalities with acanthocytes. The neuroacanthocytosis syndromes may be divided in three groups: 1) syndromes with basal ganglia degeneration, comprising autosomal recessive chorea-acanthocytosis (ChAc, MIM 200150) due to mutation of the VPS13A gene on chromosome 9q21, and X-linked McLeod syndrome (MLS, MIM 314850) due to mutation of the XK gene on the X-chromosome; 2) conditions with deceased lipoproteins, including abetalipoproteinemia or Bassen-Kornzweig syndrome (ABL, MIM 200100), and hypobetalipoproteinemia (MIM 107730), which are characterized by peripheral neuropathy and ataxia; and 3) conditions in which acanthocytosis is occasionally seen, such as neurodegeneration with brain iron accumulation (NBIA1, MIM 234200)) or Hallervorden-Spatz disease which is caused by mutations in the PKAN2 gene on chromosome 20p13-p12.3, and Huntington disease-like-2 (HDL2, MIM 606438) which can be caused by an expanded CAG/CTG repeat in the JPH3 gene on chromosome 16q24.3.
Seizures are part of the phenotype in chorea-acanthocytosis which was reported by Levine and Critchley in the late 1960s, and in McLeod syndrome which was first described in 1961 by Allen et al. who named the disorder after the propositus, a dental student at Harvard. Both chorea-acanthocytosis and McLeod syndrome will be described in more detail in this chapter.
The term acanthocyte derives from the Greek "acanthos" meaning "thorn". Acanthocytes or spur cells are spiculated red cells with a few projections of varying size and surface distribution. The cells appear contracted, dense, and irregular. In general, the formation of acanthocytes depends on alteration of the lipid composition and fluidity of the red cell membrane. Up to 3% acanthocytes in the peripheral blood smear may be considered normal; ranges beyond this are often associated with disease.
Neuroacanthocytosis syndromes form a genetically heterogeneous group of disorders characterized by the association of neurological abnormalities with acanthocytes. The neuroacanthocytosis syndromes may be divided in three groups: 1) syndromes with basal ganglia degeneration, comprising autosomal recessive chorea-acanthocytosis (ChAc, MIM 200150) due to mutation of the VPS13A gene on chromosome 9q21, and X-linked McLeod syndrome (MLS, MIM 314850) due to mutation of the XK gene on the X-chromosome; 2) conditions with deceased lipoproteins, including abetalipoproteinemia or Bassen-Kornzweig syndrome (ABL, MIM 200100), and hypobetalipoproteinemia (MIM 107730), which are characterized by peripheral neuropathy and ataxia; and 3) conditions in which acanthocytosis is occasionally seen, such as neurodegeneration with brain iron accumulation (NBIA1, MIM 234200)) or Hallervorden-Spatz disease which is caused by mutations in the PKAN2 gene on chromosome 20p13-p12.3, and Huntington disease-like-2 (HDL2, MIM 606438) which can be caused by an expanded CAG/CTG repeat in the JPH3 gene on chromosome 16q24.3.
Seizures are part of the phenotype in chorea-acanthocytosis which was reported by Levine and Critchley in the late 1960s, and in McLeod syndrome which was first described in 1961 by Allen et al. who named the disorder after the propositus, a dental student at Harvard. Both chorea-acanthocytosis and McLeod syndrome will be described in more detail in this chapter.
Boek: The Causes of Epilepsy
Pagina's: 212-215
Aantal pagina's: 3
ISBN:0-521-11447-0
Jaar van publicatie:2011
Trefwoorden:neuroacanthocytosis, chorea-acanthocytosis, McLeod syndrome