Document Detail

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population.
MedLine Citation:
PMID:  21447811     Owner:  NLM     Status:  Publisher    
This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.Pro205Ser. The clinical manifestations of the disease in this family largely resemble those of ceroid-lipofuscinosis, neuronal 5 disease, variant late infantile that was first described in Finland and include mental decline, visual deterioration, ataxia, and epileptic seizures. This description of ceroid-lipofuscinosis, neuronal 5 disease in an Arab family adds to the clinical and molecular diversity of the variant late-infantile neuronal ceroid lipofuscinoses, which were originally reported in Europe and are increasingly recognized in other populations.
Moza K Al-Kowari; Sara Hassan; Mahmoud F El-Said; Tawfeg Ben-Omran; Lars Hedin; Sara E Mole; Ramin Badii
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-29
Journal Detail:
Title:  Journal of child neurology     Volume:  -     ISSN:  1708-8283     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Molecular Genetics Laboratory, Hamad Medical Corporation, Doha, Qatar.
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