FAMILIAL ADULT-ONSET MUSCULAR-DYSTROPHY WITH LEUKOENCEPHALOPATHY

被引：6

作者：

VANENGELEN, BGM

LEYTEN, QH

BERNSEN, PLJA

GABREELS, FJM

BARKHOF, F

JOOSTEN, MG

HAMEL, BCJ

TERLAAK, HJ

RUIJS, MBM

CRUYSBERG, JRM

VALK, J

机构：

[1] UNIV HOSP NIJMEGEN,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS

[2] UNIV HOSP NIJMEGEN,DEPT OPHTHALMOL,NIJMEGEN,NETHERLANDS

[3] FREE UNIV AMSTERDAM HOSP,DEPT DIAGNOST RADIOL,AMSTERDAM,NETHERLANDS

来源：

ANNALS OF NEUROLOGY | 1992年 / 32卷 / 04期

关键词：

D O I：

10.1002/ana.410320415

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.

引用

页码：577 / 580

页数：4

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