Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations
نویسندگان
چکیده
منابع مشابه
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients
BACKGROUND Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry anyPRRT2 mutation, suggesting an existence of additional genetic mutations or possible misdiagnosis due to clinical o...
متن کاملMyotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
Paroxysmal kinesigenic dyskinesia (PKD) is commonly thought to be first described by Kertez.1 However, the typical clinical features of PKD were previously described by Shuzo Kure in a Japanese medical journal in 1892, as reviewed by Kato et al.2 The case described a 23-year-old male who had involuntary movement attacks with onset at 10 years of age that gradually increased in frequency. The at...
متن کاملNovel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family
BACKGROUND Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. METHODS Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencin...
متن کاملNovel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
BACKGROUND Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. METHODS Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 1...
متن کاملSuccessful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation
Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transm...
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ژورنال
عنوان ژورنال: Neuroscience Bulletin
سال: 2014
ISSN: 1673-7067,1995-8218
DOI: 10.1007/s12264-014-1467-7