Assuntos
Hipobetalipoproteinemias/diagnóstico , Abetalipoproteinemia/classificação , Abetalipoproteinemia/diagnóstico , Apolipoproteína B-100/genética , Feminino , Humanos , Hiperlipidemia Familiar Combinada/diagnóstico , Hipobetalipoproteinemia Familiar por Apolipoproteína B/classificação , Hipobetalipoproteinemia Familiar por Apolipoproteína B/diagnóstico , Hipobetalipoproteinemias/classificação , Hipobetalipoproteinemias/genética , Hipobetalipoproteinemias/terapia , Síndromes de Malabsorção/diagnóstico , Gravidez , Complicações na Gravidez/etiologiaRESUMO
Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.
Assuntos
Ataxia Cerebelar/genética , Aberrações Cromossômicas , Ataxia de Friedreich/genética , Genes Recessivos/genética , Abetalipoproteinemia/classificação , Abetalipoproteinemia/diagnóstico , Abetalipoproteinemia/genética , Abetalipoproteinemia/terapia , Adolescente , Alelos , Ataxia Cerebelar/classificação , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/terapia , Cerebelo/patologia , Criança , Análise Mutacional de DNA , Reparo do DNA/genética , DNA Mitocondrial/genética , Diagnóstico Diferencial , Ataxia de Friedreich/classificação , Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/terapia , Genótipo , Humanos , Imageamento por Ressonância Magnética , Doenças do Sistema Nervoso/classificação , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Doenças do Sistema Nervoso/terapia , Exame Neurológico , Fenótipo , Prognóstico , Medula Espinal/patologia , Deficiência de Vitamina E/classificação , Deficiência de Vitamina E/diagnóstico , Deficiência de Vitamina E/genética , Deficiência de Vitamina E/terapiaRESUMO
Abetalipoproteinemia (ABL) and homozygous hypobetalipoproteinemia (HBL) are inherited disorders which are classically characterized by progressive retinal and spinocerebellar disease, fat-soluble vitamin deficiency, and absence of apolipoprotein (apo) B from the plasma. Using immunoaffinity chromatography with an anti-apo B antiserum, we isolated apo B-containing lipoprotein (LpB) particles from the plasma of 4 ABL and 2 HBL patients. The LpB particles were characterized and compared with low density lipoprotein (LDL) and LpB isolated from normal plasma. The ABL/HBL LpB particles were similar in size and charge to normal LpB particles but were relatively enriched in several other apolipoproteins. They contained alpha-tocopherol in a ratio to cholesterol that was proportionately much higher than the very low ratio of alpha-tocopherol to cholesterol in plasma. They bound saturably to fibroblasts and were internalized and degraded similarly to LDL. Hence, the molecular defects in ABL and HBL permit the secretion of a very small number of apo B-containing lipoproteins which may be important for transport of alpha-tocopherol to peripheral tissues.
Assuntos
Abetalipoproteinemia/classificação , Apolipoproteínas B/análise , Hipobetalipoproteinemias/sangue , Lipoproteínas/isolamento & purificação , Vitamina E/sangue , Abetalipoproteinemia/complicações , Abetalipoproteinemia/genética , Adulto , Apolipoproteína B-100 , Apolipoproteínas B/sangue , Apolipoproteínas B/genética , Colesterol/sangue , Feminino , Fibroblastos/metabolismo , Homozigoto , Humanos , Hipobetalipoproteinemias/complicações , Hipobetalipoproteinemias/genética , Lipoproteínas/sangue , Lipoproteínas/classificação , Lipoproteínas LDL/sangue , Masculino , Pessoa de Meia-Idade , Tamanho da Partícula , Deficiência de Vitamina E/sangue , Deficiência de Vitamina E/etiologiaRESUMO
The article defines apolipoprotein diseases as the structural defects of apolipoproteins or disorders in their synthesis or secretion. The survey covers a range of atherogenous defects, providing a detailed description of their clinical-biochemical and genetic aspects as well as diagnostic and differential diagnostic criteria. Attention is paid also to the significance of analytical isoelectric focusing.
Assuntos
Apolipoproteínas/química , Arteriosclerose/etiologia , Abetalipoproteinemia/classificação , Abetalipoproteinemia/complicações , Apolipoproteínas/sangue , Apolipoproteínas/genética , Feminino , Humanos , Hipolipoproteinemias/classificação , Hipolipoproteinemias/complicações , MasculinoRESUMO
A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.
Assuntos
Abetalipoproteinemia/classificação , Hipobetalipoproteinemias/classificação , Hipolipoproteinemias/classificação , Abetalipoproteinemia/diagnóstico , Abetalipoproteinemia/genética , Abetalipoproteinemia/terapia , Adulto , Humanos , Hipobetalipoproteinemias/diagnóstico , Hipobetalipoproteinemias/genética , Hipobetalipoproteinemias/terapia , Masculino , Pessoa de Meia-IdadeRESUMO
Of three patients with familial hypobetalipoproteinemia, a 42-yeear-old white woman, who was homozygous for this autosomal dominantly inherited disease, had no detectable serum betalipoprotein and had a marked retinal pigmentary degeneration characterized by ring scotomas by Goldmann perimetry, extinguished electroretinographic responses, delayed responses and elevated thresholds during dark adaptometry, and abnoramal cone thresholds. A 4-year-old daughter and a 28-year-old niece of the first patient, who wer heterozygous, had reduced but detectable levels of serum betalipoprotein and no significant retinal pigmentary degeneration. Unlike patients with autosomal recessively inherited abetalipoproteinemia (the Bassen-Kornzweig syndrome), none of our patients had significant neurologic of cardiac defects. Although the level of serum betalipoprotein might be correlated with retinal pigmentary degeneration in familial hypobetalipoproteinemia and abetalipoproteinemia, it appears that neurologic and cardiac defects are dependent on other factors.