TITLE

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

AUTHOR(S)
Choi, Kwang-Dong; Yook, Ji-Won; Kim, Min-Ji; Kim, Hyang-Sook; Park, Young-Eun; Kim, Ji; Choi, Jae-Hwan; Shin, Jin-Hong; Kim, Dae-Seong
PUB. DATE
September 2013
SOURCE
Neurological Sciences;Sep2013, Vol. 34 Issue 9, p1629
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
90428795

 

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