Adult metachromatic leukodystrophy:: three cases with normal nerve conduction velocities in a family

被引：11

作者：

Cengiz, N ^{[1
]}

Özbenli, T

Onar, M

Yildiz, L

Ertas, B

机构：

[1] Ondokuz Mayis Univ, Fac Med, Dept Neurol, TR-55139 Kurupelit, Samsun, Turkey

[2] Ondokuz Mayis Univ, Fac Med, Dept Pathol, Samsun, Turkey

来源：

ACTA NEUROLOGICA SCANDINAVICA | 2002年 / 105卷 / 06期

关键词：

D O I：

10.1034/j.1600-0404.2002.01257.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Here, we report three cases of late onset metachromatic leukodystrophy (MLD) within a family. The patients presented with psychiatric disturbances and dementia. The arylsulphatase A (ASA) level in leucocytes was zero in all the patients. The cranial magnetic resonance imaging (MRI) revealed bilateral symmetrical demyelination but the nerve conduction velocities were normal in all three cases. The clinical, biochemical. imaging and electrophysiological data of the family has been discussed.

引用

页码：454 / 457

页数：4

共 20 条

[1] ADULT FORMS OF METACHROMATIC LEUKODYSTROPHY - CLINICAL AND BIOCHEMICAL APPROACH [J].

BAUMANN, N ;

MASSON, M ;

CARREAU, V ;

LEFEVRE, M ;

HERSCHKOWITZ, N ;

TURPIN, JC .

DEVELOPMENTAL NEUROSCIENCE, 1991, 13 (4-5) :211-215

[2] Seizures as a presenting feature of late onset metachromatic leukodystrophy [J].

Bostantjopoulou, S ;

Katsarou, Z ;

Michelakaki, H ;

Kazis, A .

ACTA NEUROLOGICA SCANDINAVICA, 2000, 102 (03) :192-195

[3]

BRION S, 1970, REV NEUROL, V122, P161

[4] MULTIMODAL EVOKED-POTENTIAL STUDIES IN LEUKODYSTROPHIES OF CHILDREN [J].

DEMEIRLEIR, LJ ;

TAYLOR, MJ ;

LOGAN, WJ .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1988, 15 (01) :26-31

[5]

DUHANN A, 1992, ARCH NEUROL-CHICAGO, V49, P1088

[6] Adult-onset MLD: A gene mutation with isolated polyneuropathy [J].

Felice, KJ ;

Lira, MG ;

Natowicz, M ;

Grunnet, ML ;

Tsongalis, GJ ;

Sima, AAF ;

Kaplan, RF .

NEUROLOGY, 2000, 55 (07) :1036-1039

[7] METACHROMATIC LEUKODYSTROPHY MANIFESTING AS A SCHIZOPHRENIC DISORDER - COMPUTED TOMOGRAPHIC CORRELATION [J].

FINELLI, PF .

ANNALS OF NEUROLOGY, 1985, 18 (01) :94-95

[8] METACHROMATIC LEUKODYSTROPHY - CONDUCT DISORDER PROGRESSING TO DEMENTIA [J].

FISHER, NR ;

COPE, SJ ;

LISHMAN, WA .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1987, 50 (04) :488-489

[9] METACHROMATIC LEUKODYSTROPHY - MULTIPLE NONFUNCTIONAL AND PSEUDODEFICIENCY ALLELES IN A PEDIGREE - PROBLEMS WITH DIAGNOSIS AND COUNSELING [J].

FRANCIS, GS ;

BONNI, A ;

SHEN, N ;

HECHTMAN, P ;

YAMUT, B ;

CARPENTER, S ;

KARPATI, G ;

CHANG, PL .

ANNALS OF NEUROLOGY, 1993, 34 (02) :212-218

[10] ADULT-ONSET METACHROMATIC LEUKODYSTOPHY PRESENTING AS ISOLATED PERIPHERAL NEUROPATHY [J].

FRESSINAUD, C ;

VALLAT, JM ;

MASSON, M ;

JAUBERTEAU, MO ;

BAUMANN, N ;

HUGON, J .

NEUROLOGY, 1992, 42 (07) :1396-1398

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