Document Detail

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
MedLine Citation:
PMID:  23344743     Owner:  NLM     Status:  Publisher    
Anticipation is a phenomenon characterized by decreasing age at onset and increasing severity of symptoms of a disease in successive generations within a pedigree. Anticipation mostly occurs in neurodegenerative diseases with expansion of unstable trinucleotide repeats. However, it has not been previously pointed out in episodic ataxia type 2 (EA2). Clinical and genetic analyses were performed in nine members from three consecutive generations of a Korean family with EA2. We performed a polymerase chain reaction (PCR)-based direct sequence analysis of all coding regions of CACNA1A using genomic DNA. The clinically affected family members showed recurrent vertigo, interictal nystagmus, and childhood epilepsy. There is a decrease in the age onset (possible genetic anticipation) in three succeeding generations of the family. Genetic analysis identified a splice site mutation (p.Val1465Glyfs13X) and normal trinucleotide repeats in CACNA1A in all clinically affected and one unaffected members. Recognizing anticipation would aid in genetic counseling in EA2.
Kwang-Dong Choi; Ji-Won Yook; Min-Ji Kim; Hyang-Sook Kim; Young-Eun Park; Ji Soo Kim; Jae-Hwan Choi; Jin-Hong Shin; Dae-Seong Kim
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-24
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  -     ISSN:  1590-3478     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Pusan, Korea.
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