The Ala53Thr mutation in the α‐synuclein gene in a Korean family with Parkinson disease

To the Editor: At least six geneshavebeen found tobeassociated with familial Parkinson disease (PD) thus far and the first PD-associated mutation (Ala53Thr) was found in the a-synuclein (SNCA) gene (1). Because most families carrying theAla53Thrmutation have been found in Greek and Italian origin, the existence of a founder effect’ has been suggested (2, 3). Although, two more mutations (Ala30Pro and Glu46Lys) were detected in German and Spanish PD families, respectively (4, 5), many other studies failed to detect any mutations in this gene indicating thatSNCA genemutations are quite rare (6–12). Here we report the first Korean PD family with the Ala53Thr mutation in the SNCA gene. The results of haplotype analysis showed that this mutation occurred on a new haplotype that was different from the Greek and Italian origin. A 37-year-old Korean man (II:4; Fig. 1) visited the movement disorder clinic complaining of progressive slowness and stiffness in the right limbs since the age of 35. A neurological examination showed parkinsonian symptoms including a masked face, hypophonic speech, bradykinesia and more severe rigidity in the right arm. There were no other neurological signs such as resting tremor and dystonia. The patient had an excellent response to levodopa for 2 years without motor complications. The family history showed that the mother of the proband (I:2) developed parkinsonism at the age of 63 years and died with pneumonia at the age of 67. She had similar