Strategies for treatment in Alexander disease.

[alexander disease]

Alexander disease is a rare and generally fatal disorder of the CNS , originally classified among the leukodystrophies because of the prominent myelin deficits found in young patients . The most common form of this disease affects infants , who often have profound mental retardation and a variety of developmental delays , but later onset forms also occur , sometimes with little or no white matter pathology at all . The pathological hallmark of Alexander disease is the inclusion body , known as Rosenthal fiber , within the cell bodies and processes of astrocytes . Recent genetic studies identified heterozygous missense mutations in glial fibrillary acidic protein (GFAP ), the major intermediate filament protein in astrocytes , as the cause of nearly all cases of Alexander disease . These studies have transformed our view of this disorder and opened new directions for investigation and clinical practice , particularly with respect to diagnosis . Mechanisms by which expression of mutant forms of glial fibrillary acidic protein (GFAP ) lead to the pleiotropic manifestations of disease (afflicting cell types beyond the ones expressing the mutant gene ) are slowly coming into focus . Ideas are beginning to emerge that suggest several compelling therapeutic targets for interventions that might slow or arrest the evolution of the disease . This review will outline the rationale for pursuing these strategies , and highlight some of the critical issues that must be addressed in the planning of future clinical trials .

Diseases
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Diseases presenting "a variety of developmental delays" symptom

alexander disease

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