A family with XXXX , @entity400 , and parkin mutations.

@entity1 @entity4401 @entity191 @entity38798 @entity400 @entity56780 @entity71505
BACKGROUND: Mutations in the parkin gene cause autosomal recessive early-onset @entity191 (EOPD). The @entity38798 variant in the @entity56780 gene ( @entity56780 ) is common in essential @entity400 (ET). OBJECTIVE: To investigate the presence of mutations in the parkin gene and the @entity38798 variant in the @entity56780 gene in a Mexican family with EOPD, ET, and @entity4401 . DESIGN: Direct sequencing, semiquantitative polymerase chain reaction, and reverse transcription-polymerase chain reaction were performed in the 14 members of this family. SETTING: Mexican family. @entity1 Two @entity1 with EOPD were analyzed. RESULTS: Compound heterozygous mutations ( @entity71505 ) in the parkin gene were identified in 2 @entity1 with EOPD, characterized by beneficial response to levodopa, relatively slow progression, and motor complications. Although heterozygous EX 3_6 del and homozygous EX 5 del mutations in the parkin gene have been previously described, to our knowledge, this is the first report of these mutations in compound heterozygotes. Seven heterozygous @entity38798 variants in the @entity56780 gene were found in this pedigree, but they did not cosegregate with ET, @entity191 , or @entity4401 , supporting the conclusion that this variant is not associated with ET. CONCLUSIONS: Compound heterozygous parkin mutations ( @entity71505 ) caused EOPD in this family, but the @entity38798 variant in the @entity56780 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.
