Clinical features and molecular bases of neuroacanthocytosis

Journal of Molecular Medicine

Volumn 80, Issue 8, 2002, Pages 475-491

  Rampoldi, Luca ^a   Danek, Adrian ^b   Monaco, Anthony P ^c  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Abetalipoproteinaemia; Acanthocytosis; Chorea; McLeod syndrome; Neuroacanthocytosis

Indexed keywords

APOLIPOPROTEIN B; CREATINE KINASE; LIPOPROTEIN;

ABETALIPOPROTEINEMIA; ACANTHOCYTOSIS; AREFLEXIA; AUTOSOMAL RECESSIVE DISORDER; BLOOD GROUP KELL SYSTEM; CHOREA; CLINICAL FEATURE; CREATININE BLOOD LEVEL; DEMENTIA; DYSARTHRIA; DYSKINESIA; DYSPHAGIA; ENZYME DEFICIENCY; GENE EXPRESSION; HALLERVORDEN SPATZ DISEASE; HEMOLYTIC ANEMIA; HUMAN; HYPERTRANSLUCENT LUNG; MOLECULAR GENETICS; MYOPATHY; NEUROLOGIC DISEASE; NONHUMAN; NUTRITIONAL INTOLERANCE; PERIPHERAL NEUROPATHY; RETINITIS PIGMENTOSA; REVIEW; SEIZURE; SPINOCEREBELLAR DEGENERATION; TONGUE; VITAMIN DEFICIENCY;

ABETALIPOPROTEINEMIA; ACANTHOCYTES; CHOREATIC DISORDERS; HUMANS; SYNDROME;

EID: 0036375439     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-002-0349-z     Document Type: Review

References (177)

1. Present status of spiculed red cells and their relationship to the discocyte-echinocyte transformation: A critical review
2. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
3. On having no beta-lipoprotein: A syndrome comprising abetalipoproteinemia, acanthocytosis and steatorrhoea
4. Acanthrocytosis (sic): A genetic erythrocytic malformation
5. Un nouveau cas d'acanthocytose: Dysmorphie erythrocytaire congenitale avec retinite, troubles nerveux et stigmates degeneratifs
6. A new hereditary acanthocytosis syndrome
7. An adult form of acanthocytosis
8. Hereditary neurological disease with acanthocytosis. A new syndrome
9. Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocytosis. I. Spin labeling studies and lipid analyses
10. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
11. Familial tic disorder, parkinsonism, motor neurone disease, and acanthocytosis: A new syndrome
12. Neuroacanthocytosis presenting as Parkinsonism
13. Cognitive findings in patients with chorea-acanthocytosis
14. The pattern of cognitive impairments in neuroacanthocytosis
15. CT and MR findings of neuroacanthocytosis
16. Late appearance of acanthocytes during the course of chorea-acanthocytosis
17. Autosomal recessive chorea-acanthocytosis linked to 9q21
18. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: A combined PET and MRI study
19. Magnetic resonance imaging in Huntington disease
20. Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings
21. Nigral degeneration in neuroacanthocytosis
22. Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: A positron emission tomographic study
23. Regional brain gluocose metabolism in neuroacanthocytosis
24. Frontal impairment and hypoperfusion in neuroacanthocytosis
25. A pedigree of amyotrophic chorea with acanthocytosis
26. Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations
27. "Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies
28. Peripheral neuropathy in amyotrophic chorea-acanthocytosis
29. Chorea-acanthocytosis: Report of a family and neuropathological study of two cases
30. Choreo-acanthocytosis like phenotype without acanthocytes: Clinico-pathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus
31. Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis
32. Deleted antigens of the rhesus and Kell blood groups: Association with cell membrane defects
33. Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis
34. Peripheral nerve involvement in familial chorea-acanthocytosis
35. Delayed immune response in chorea-amyotrophy with spherocytosis
36. Chorea-acanthocytosis with polyclonal antibodies to ganglioside GM1
37. Anti-GM1 IgM antibodies in motor neuron disease and neuropathy
38. Chorea-acanthocytosis: Genetic linkage to chromosome 9q21
39. A conserved sorting-associated protein is mutant in chorea-acanthocytosis
40. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
41. mRNA quality control: Marking the message for life or death
42. Tip genes act in parallel pathways of early Dictyostelium development
43. Morphological classification of the yeast vacuolar protein sorting mutants: Evidence for a prevacuolar compartment in class E vps mutants
44. SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals
45. Furin: A mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins
46. Diagnostic tests for choreo-acanthocytosis
47. Neuroacanthocytosis without acanthocytes
48. Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis
49. Chorea-acanthocytosis: Abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins
50. Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis
51. Red cell deformability and lipid composition in two forms of acanthocytosis: Enrichment of acanthocytic populations by density gradient centrifugation
52. Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method
53. Band 3 in aging and neurological disease
54. Alterations of band 3 transport protein by cellular aging and disease: Erythrocyte band 3 and glucose transporter share a functional relationship
55. Erythrocyte anion transporter and antibrain immunoreactivity in chorea-acanthocytosis. A contribution to etiology, genetics, and diagnosis
56. Membrane protein band 3 alteration associated with neurologic disease and tissue-reactive antibodies
57. Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocythosis. II. Abnormal degradation of membrane proteins
58. Molecular basis of Kell blood group phenotypes
59. Association of XK and Kell blood group proteins
60. The Kell blood group system and the McLeod phenotype
61. The Kell blood group system: A review
62. A new phenotype (McLeod) in the Kell blood-group system
63. McLeod neuroacanthocytosis: Genotype and phenotype
64. A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
65. Cerebral involvement in McLeod syndrome
66. Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: Report of a family
67. Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis
68. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
69. Dopamine D2 receptor imaging with SPECT: Studies in different neuropsychiatric disorders
70. McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
71. Normal dystrophin in McLeod myopathy
72. Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome)
73. McLeod syndrome: A distinct form of neuroacanthocytosis
74. A novel frame-shift mutation in the McLeod syndrome gene in a Japanese family
75. Benign X-linked myopathy with acanthocytes (McLeod syndrome)
76. A case of McLeod syndrome with unusually severe myopathy
77. Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis
78. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
79. Gene deletion in a patient with granulomatous disease and McLeod syndrome: Fine mapping of the Xk gene locus
80. Localization of the McLeod locus (XK) within XP21 by deletion analysis
81. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
82. Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients
83. Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21
84. First example of anti-Kx in a person with the McLeod phenotype and without chronic granulomatous disease
85. A novel mutation of the McLeod syndrome gene in a Japanese family
86. A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells
87. A spontaneous novel XK gene mutation in a patient with McLeod syndrome
88. Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles
89. Molecular cloning and primary structure of Kell blood group protein
90. Evolutionary families of metallopeptidases
91. Mammalian membrane metallopeptidases: NEP, ECE, KELL and PEX
92. Proteolytic processing of big endothelin-3 by the kell blood group protein
93. The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells
94. Expression of Kell blood group protein in nonerythroid tissues
95. The ced-8 gene controls the timing of programmed cell deaths in C. elegans
96. Molecular defects underlying the Kell null phenotype
97. Molecular basis of the Kell-null phenotype: A mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens
98. A murine monoclonal antibody against Kx protein which reacts also with beta-spectrin
99. Unmasking of Kx antigen by reduction of disulphide bonds on normal and McLeod red cells
100. Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides
101. Intracellular assembly of Kell and XK blood group proteins
102. Topology of Kell blood group protein and the expression of multiple antigens by transfected cells
103. The temporal requirement for endothelin receptor-B signalling during neural crest development
104. Endothelin and dopamine release
105. An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin
106. Endothelin-converting enzyme: Ultrastructural localization and its recycling from the cell surface
107. Cellular distribution of endothelin-converting enzyme-1 in human tissues
108. Kell and XK immunohistochemistry in McLeod myopathy
109. Abnormal membrane physical properties of red cells in McLeod syndrome
110. Kell blood group antigens are part of a 93:000-dalton red cell membrane protein
111. Isolation of Kell-active protein from the red cell membrane
112. Blood group-active surface molecules of the human red blood cell
113. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins
114. Absorption, lipoprotein transport, and regulation of plasma concentrations of vitamin E in humans
115. The measurement of nanograms of tocopherol from needle aspiration biopsies of adipose tissue: Normal and abetalipoproteinemic subjects
116. The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption
117. Vitamin E and the nervous system
118. Progressive neuropathologic lesions in vitamin E-deficient rhesus monkeys
119. Neuropathology of abetalipoproteinemia: A possible complication of the tocopherol (vitamin E) deficient state
120. Nigrostriatal function in vitamin E deficiency: Clinical, experimental, and positron emission tomographic studies
121. Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia
122. Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon
123. Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic
124. Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia
125. Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia
126. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
127. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
128. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
129. Human microsomal triglyceride transfer protein large subunit gene structure
130. Genes for apolipoprotein B and microsomal triglyceride transfer protein are expressed in the heart: Evidence that the heart has the capacity to synthesize and secrete lipoproteins
131. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia
132. A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia
133. A novel abetalipoproteinemia genotype. Identification of a mis-sense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase
134. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia
135. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene
136. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia
137. A common functional polymorphism in the promoter region of the microsomal triglyceride transfer protein gene influences plasma LDL levels
138. A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP -493G/T) influences lipoprotein phenotype in familial hypercholesterolemia
139. Common polymorphism in promoter of microsomal triglyceride transfer protein gene influences cholesterol, apoB, and triglyceride levels in young African American men: Results from the Coronary Artery Risk Development in Young Adults (CARDIA) study
140. Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex
141. The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain
142. Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability
143. The microsomal triglyceride transfer protein facilitates assembly and secretion of apolipoprotein B-containing lipoproteins and decreases cotranslational degradation of apolipoprotein B in transfected COS-7 cells
144. An inhibitor of the microsomal triglyceride transfer protein inhibits apoB secretion from HepG2 cells
145. Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes
146. Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice
147. Familial hypobetalipoproteinemia
148. Familial lipoprotein deficiency: Abetalipoproteinemia; hypobetalipoproteinemia and Tangier's disease
149. Disorders of lipid absorption
150. Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia
151. Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene
152. A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia
153. The hypobetalipoproteinemias
154. Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice
155. Disorders of the developing nervous system of vitamin E-deficient rats
156. apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes
157. Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes
158. Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population
159. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia
160. Genetic heterogeneity in familial hypobetalipoproteinemia: Linkage and non-linkage to the apoB gene in Caucasian families
161. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22
162. Decreased fluidity of red cell membrane lipids in abetalipoproteinemia
163. Alterations in erythrocyte membrane lipids in abetalipoproteinemia: Phospholipid and fatty acyl composition
164. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions
165. Chorea acanthocytosis: Clinical pathological and biochemical aspects
166. Neuroacanthocytosis with autosomal dominant inheritance, normal serum CK and preserved myotatic reflexes
167. Pigmentary retinal dystrophy in Hallervorden-Spatz disease: Clinico-pathological report of a case
168. Coexistence of Hallervorden-Spatz disease with acanthocytosis
169. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy
170. Hallervorden-Spatz syndrome with acanthocytosis
171. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)
172. Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
173. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)
174. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome