| Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. | |
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MedLine Citation:
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PMID: 23344743 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2013-1-24 |
Journal Detail:
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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:
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Created Date: 2013-1-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100959175 Medline TA: Neurol Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Pusan, Korea. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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