Document Detail

Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.
MedLine Citation:
PMID:  1375558     Owner:  NLM     Status:  MEDLINE    
Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.
G Lanzi; U Balottin; D Franciotta; E Maserati; A Ottolini; F Pasquali; P Veggiotti
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European neurology     Volume:  32     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  1992  
Date Detail:
Created Date:  1992-07-01     Completed Date:  1992-07-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  121-5     Citation Subset:  IM    
Fondazione Istituto Neurologico C. Mondino, Università di Pavia, Italy.
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MeSH Terms
Ataxia Telangiectasia / diagnosis,  genetics*,  immunology
Athetosis / diagnosis,  genetics,  immunology
Chorea / diagnosis,  genetics,  immunology
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 7*
Follow-Up Studies
Genes, Recessive / genetics*
Immunoglobulin A / metabolism
Immunoglobulin E / metabolism
Leukocyte Count
Lymphocyte Activation / genetics,  immunology
Mental Retardation / diagnosis,  genetics,  immunology
Nervous System Diseases / diagnosis,  genetics*,  immunology
Neurologic Examination
Psychomotor Disorders / diagnosis,  genetics,  immunology
alpha-Fetoproteins / metabolism
Reg. No./Substance:
0/Immunoglobulin A; 0/alpha-Fetoproteins; 37341-29-0/Immunoglobulin E

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