Channelpedia

PubMed 23344743


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Automatically associated channels: Cav2.1



Title: Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.

Authors: 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

Journal, date & volume: Neurol. Sci., 2013 Sep , 34, 1629-32

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23344743


Abstract
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.