Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

@article{Kirola2016IdentificationOA,
  title={Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.},
  author={Laxmi Kirola and Madhuri Behari and Chandan Shishir and B K Thelma},
  journal={Parkinsonism & related disorders},
  year={2016},
  volume={31},
  pages={124-128}
}
BACKGROUND A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in other populations still remains unidentified. METHODS An ARJP family with two affected siblings characterized by frequent tremor with bradykinesia and rigidity was recruited in… CONTINUE READING
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