Metachromatic leukodystrophy: two sides of a coin.
نویسندگان
چکیده
منابع مشابه
Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy.
Two children with metachromatic leukodystrophy underwent bone marrow transplantation. In both patients MR subsequently showed, first, white matter changes, then later, lack of change as the patients stabilized clinically.
متن کاملPseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity (aryl-sulfate sulfohydrolase, EC 3.1.6.1). The same enzyme deficiency has been noted in clinically normal individuals, a condition known as pseudo arylsulfatase-A deficiency. With a nonselective method, somatic cell hybrids were obtained from cultured fibroblasts of ...
متن کاملLong-term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy.
W e describe a 16-year-old boy with juvenile metachromatic leukodystrophy who was treated with bone marrow transplantation. Follow-up over 8 years showed no increase in symptoms, no progression of neurological signs, and no neuropsychological deterioration. We conclude that bone marrow transplantation may increase brain levels of arylsulfatase A enough to prevent deterioration in patients with ...
متن کاملThe insidious presentation of the juvenile form of metachromatic leucodystrophy.
Certain progressive cerebral diseases can present with emotional and behavioural disorders. The juvenile form of metachromatic leucodystrophy is one of these. The histories of two children with this condition are given to demonstrate the insidious form of onset.
متن کاملImprovement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy.
IMPORTANCE We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT). OBSERVATIONS We conducted serial magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) as standard follow-up after HSCT with cord blood in 1 patient with juvenile metachromatic leukodystro...
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عنوان ژورنال:
- BMJ
دوره 307 6919 شماره
صفحات -
تاریخ انتشار 1993