Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64

被引:51
作者
Uemichi, T
Uitti, RJ
Koeppen, AH
Donat, JR
Benson, MD
机构
[1] Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
[2] Osaka Med Ctr Canc & Cardiovasc Dis, Osaka, Japan
[3] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA
[4] Stratton Vet Affairs Med Ctr, Serv Neurol, Albany, NY USA
[5] Univ Saskatchewan, Dept Clin Neurol Sci, Saskatoon, SK, Canada
[6] Richard L Roudebush Vet Affairs Med Ctr, Indianapolis, IN 46202 USA
关键词
D O I
10.1001/archneur.56.9.1152
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage. Objective: To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). Methods: DNA isolated from peripheral blood and archival tissues of affected members of the kindred was studied by direct DNA sequencing and restriction fragment length polymorphism analysis. Results: Direct DNA sequencing identified a thymine-to-cytosine transition at the second base of codon 64, which resulted in a replacement of serine for phenylalanine. This mutation, which creates an additional HinfI site was detected by restriction fragment length polymorphism analysis in each affected individual. Conclusion: In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).
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页码:1152 / 1155
页数:4
相关论文
共 30 条
[1]  
Benson MD, 1996, AM J PATHOL, V148, P351
[2]   Transthyretin amyloidosis [J].
Benson, MD ;
Uemichi, T .
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1996, 3 (01) :44-56
[3]   STRUCTURE OF PRE-ALBUMIN - SECONDARY, TERTIARY AND QUATERNARY INTERACTIONS DETERMINED BY FOURIER REFINEMENT AT 1.8-A [J].
BLAKE, CCF ;
GEISOW, MJ ;
OATLEY, SJ ;
RERAT, B ;
RERAT, C .
JOURNAL OF MOLECULAR BIOLOGY, 1978, 121 (03) :339-356
[4]  
BOOTH DR, 1996, NEUROMUSCULAR DISORD, V6, pS20
[5]   POLYMORPHISM OF HUMAN-PLASMA THYROXINE BINDING PRE-ALBUMIN [J].
DWULET, FE ;
BENSON, MD .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1983, 114 (02) :657-662
[6]  
Ferlini A, 1996, CLIN GENET, V49, P10
[7]   Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) [J].
Garzuly, F ;
Wisniewski, T ;
Brittig, F ;
Budka, H .
NEUROLOGY, 1996, 47 (06) :1562-1567
[8]   AMYLOID FIBRILS IN HEREDITARY CEREBRAL-HEMORRHAGE WITH AMYLOIDOSIS OF ICELANDIC TYPE IS A VARIANT OF GAMMA-TRACE BASIC-PROTEIN (CYSTATIN-C) [J].
GHISO, J ;
JENSSON, O ;
FRANGIONE, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (09) :2974-2978
[9]   FAMILIAL OCULOLEPTOMENINGEAL AMYLOIDOSIS [J].
GOREN, H ;
STEINBERG, MC ;
FARBOODY, GH .
BRAIN, 1980, 103 (SEP) :473-495
[10]   ABNORMAL-METABOLISM OF GAMMA-TRACE ALKALINE MICROPROTEIN - THE BASIC DEFECT IN HEREDITARY CEREBRAL-HEMORRHAGE WITH AMYLOIDOSIS [J].
GRUBB, A ;
JENSSON, O ;
GUDMUNDSSON, G ;
ARNASON, A ;
LOFBERG, H ;
MALM, J .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (24) :1547-1549