ATAXIA AND PERIPHERAL NEUROPATHY - A BENIGN VARIANT OF PEROXISOME DYSGENESIS

被引：14

作者：

MACCOLLIN, M

DEVIVO, DC

MOSER, AB

BEARD, M

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR,INST NEUROL,DIV CHILD NEUROL,710 W 168TH ST,NEW YORK,NY 10032

[2] JOHNS HOPKINS UNIV,KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21218

[3] NATHAN KLINE INST NEUROPSYCHIAT RES,ORANGEBURG,NY

来源：

ANNALS OF NEUROLOGY | 1990年 / 28卷 / 06期

关键词：

D O I：

10.1002/ana.410280617

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 5‐year‐old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very‐long‐chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis. Copyright © 1990 American Neurological Association

引用

收藏

页码：833 / 836

页数：4

相关论文

共 12 条

[1] GENETIC-HETEROGENEITY IN THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME AND OTHER INHERITED DISORDERS WITH A GENERALIZED IMPAIRMENT OF PEROXISOMAL FUNCTIONS - A STUDY USING COMPLEMENTATION ANALYSIS [J].

BRUL, S ;

WESTERVELD, A ;

STRIJLAND, A ;

WANDERS, RJA ;

SCHRAM, AW ;

HEYMANS, HSA ;

SCHUTGENS, RBH ;

VANDENBOSCH, H ;

TAGER, JM .

JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (06) :1710-1715

[2] PEROXISOMAL ALANINE - GLYOXYLATE AMINOTRANSFERASE DEFICIENCY IN PRIMARY HYPEROXALURIA TYPE-I [J].

DANPURE, CJ ;

JENNINGS, PR .

FEBS LETTERS, 1986, 201 (01) :20-24

[3]

Lazarow P. B., 1989, METABOLIC BASIS INHE, P1479

[4] ADRENOLEUKODYSTROPHY - SURVEY OF 303 CASES - BIOCHEMISTRY, DIAGNOSIS, AND THERAPY [J].

MOSER, HW ;

MOSER, AE ;

SINGH, I ;

ONEILL, BP .

ANNALS OF NEUROLOGY, 1984, 16 (06) :628-641

[5] NEONATAL SEIZURES AND RETARDATION IN A GIRL WITH BIOCHEMICAL FEATURES OF X-LINKED ADRENOLEUKODYSTROPHY - A POSSIBLE NEW PEROXISOMAL DISEASE ENTITY [J].

NAIDU, S ;

HOEFLER, G ;

WATKINS, PA ;

CHEN, WW ;

MOSER, AB ;

HOEFLER, S ;

RANCE, NE ;

POWERS, JM ;

BEARD, M ;

GREEN, WR ;

HASHIMOTO, T ;

MOSER, HW .

NEUROLOGY, 1988, 38 (07) :1100-1107

[6] PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY - BIOCHEMICAL AND IMMUNOBLOT ANALYSIS OF CULTURED SKIN FIBROBLASTS [J].

OLD, SE ;

DEVIVO, DC .

ANNALS OF NEUROLOGY, 1989, 26 (06) :746-751

[7]

POLLTHE BT, 1989, HUM GENET, V81, P175

[8] GENETIC AND PHENOTYPIC HETEROGENEITY IN DISORDERS OF PEROXISOME BIOGENESIS - A COMPLEMENTATION STUDY INVOLVING CELL-LINES FROM 19 PATIENTS [J].

ROSCHER, AA ;

HOEFLER, S ;

HOEFLER, G ;

PASCHKE, E ;

PALTAUF, F ;

MOSER, A ;

MOSER, H .

PEDIATRIC RESEARCH, 1989, 26 (01) :67-72

[9] A PROGRESSIVE NEUROLOGIC SYNDROME IN CHILDREN WITH CHRONIC LIVER-DISEASE [J].

ROSENBLUM, JL ;

KEATING, JP ;

PRENSKY, AL ;

NELSON, JS .

NEW ENGLAND JOURNAL OF MEDICINE, 1981, 304 (09) :503-508

[10] PEROXISOMAL MEMBRANE GHOSTS IN ZELLWEGER SYNDROME - ABERRANT ORGANELLE ASSEMBLY [J].

SANTOS, MJ ;

IMANAKA, T ;

SHIO, H ;

SMALL, GM ;

LAZAROW, PB .

SCIENCE, 1988, 239 (4847) :1536-1538