JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION

被引：11

作者：

GUFFON, N ^{[1
]}

SOUILLET, G ^{[1
]}

MAIRE, I ^{[1
]}

DORCHE, C ^{[1
]}

MATHIEU, M ^{[1
]}

GUIBAUD, P ^{[1
]}

机构：

[1] HOP DEBROUSSE,SERV IMMUNOHEMATOL,F-69322 LYON 05,FRANCE

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1995年 / 18卷 / 02期

关键词：

D O I：

10.1007/BF00711755

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Metachromatic leukodystrophy (MLD; McKusick 250100) is an autosomal recessive inherited neurodegenerative lysosomal disease caused by a deficiency in arylsulphatase A (ASA; EC 3.1.6.1). Three forms of MLD have been differentiated according to the age of onset: infantile, juvenile and adult. Successful bone marrow transplantation (BMT) engraftment has been shown to modify the neurological course with a variable efficiency (Krivit et al 1991; Dhuna et al 1992). We describe a girl with familial slightly symptomatic juvenile MLD, who underwent a BMT 2 1/2, years ago. The patient improved, whereas her untreated brother became quickly bed-ridden.

引用

页码：159 / 161

页数：3

共 3 条

[1] MARKED CLINICAL DIFFERENCE BETWEEN 2 SIBS AFFECTED WITH JUVENILE METACHROMATIC LEUKODYSTROPHY [J].

CLARKE, JTR ;

SKOMOROWSKI, MA ;

CHANG, PL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (01) :10-13

[2] LONGITUDINAL NEUROPHYSIOLOGIC STUDIES IN A PATIENT WITH METACHROMATIC LEUKODYSTROPHY FOLLOWING BONE-MARROW TRANSPLANTATION [J].

DHUNA, A ;

TORO, C ;

TORRES, F ;

KENNEDY, WR ;

KRIVIT, W .

ARCHIVES OF NEUROLOGY, 1992, 49 (10) :1088-1092

[3]

KRIVIT W, 1991, WESTMINSTER MED SCH, V2, P57

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