Neuroacanthocytosis: new developments in a neglected group of dementing disorders

被引:62
作者
Danek, A [1 ]
Jung, HH
Melone, MAB
Rampoldi, L
Broccoli, V
Walker, RH
机构
[1] Univ Munich, D-81366 Munich, Germany
[2] Univ Zurich Hosp, Dept Neurol, CH-8091 Zurich, Switzerland
[3] Univ Naples 2, Dept Neurol Sci, Naples, Italy
[4] Ist Sci San Raffaele, I-20132 Milan, Italy
[5] Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA
[6] Mt Sinai Sch Med, New York, NY USA
关键词
acanthocytosis; dementia; chorea; neurodegeneration; basal ganglia diseases; differential diagnosis; review;
D O I
10.1016/j.jns.2004.11.024
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been summarized as neuroacanthocytosis. This is a heterogeneous group of conditions that can now be clearly subdivided on the basis of genetic discoveries. The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS). Huntington's disease-like 2 (HLD2) and pantothenate kinase associated neurodegeneration (PKAN) can now also be included. All of these share dyskinesias, cognitive deterioration and progressive neurodegeneration mainly of the basal ganglia, but they are sufficiently distinct to permit a specific working diagnosis on the basis of clinical, laboratory and imaging findings. In addition, the VPS13A (formerly called CHAC), XK, JPH3 and PANK2 genes, respectively, may be examined for mutations. Unfortunately, little is yet known about the normal and abnormal physiology of the protein products of these genes, but they appear to be involved in membrane function and intracellular protein sorting. Since no cures are yet available, development and study of disease models in experimental animals (mouse, C. elegans) is a priority for current research. From a clinical point of view, the common occurrence of cardiornyopathy in MLS, the transfusion hazards due to the McLeod Kell phenotype and the possibility of improving the violent trunk spasms and orofacial dyskinesias typical for ChAc (with subsequent lip or tongue mutilations and feeding dystonia) by deep brain surgery or stimulation should be considered in patient management. (c) 2004 Elsevier B.V. All rights reserved.
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页码:171 / 186
页数:16
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