adrenoleukodystrophy: incidence and results of extended family screening
نویسندگان
چکیده
leukodystrophies are metabolic disorders of the brain, spinal cord and, in part, of the peripheral nerves that lead to degeneration of the white matter (myelin) of the brain. since mainly nerve tracts, which control voluntary movement, are embedded in myelin, patients with leukodystrophy suffer from progressive movement disorders and later also from mental deterioration. through a survey, we calculated the incidence of all major forms of leukodystrophy. only diagnoses based on signs and symptoms, specific biochemical tests in association with typical findings and/or neuroradiologically proven white matter involvement were accepted. in accordance with these strict criteria, our study involved 26 pedigrees with a total of 43 patients or identified at-risk members. diagnostic assays were performed in 22 at-risk persons (51%). the total incidence was 2.38/100000, with incidence of ald: 0.83/100000 and mld: 0.68/100000, krabbe disease: 0.6/100000.
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۷، شماره ۳، صفحات ۱۷۷۱-۱۷۷۱
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