Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

@article{Yoon2013AutosomalRH,
  title={Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort},
  author={Grace Yoon and Berivan Baskin and Mark A Tarnopolsky and Kym M. Boycott and Michael T. Geraghty and Erick Sell and Sharan Goobie and Wendy S. Meschino and Brenda Banwell and Peter N. Ray},
  journal={neurogenetics},
  year={2013},
  volume={14},
  pages={181-188}
}
We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the province of Ontario. Patients with documented corticospinal tract abnormalities were screened by whole gene sequencing and multiplex ligation probe amplification for mutations in nine genes known to cause ARHSP. Of a cohort of 39 patients, a genetic diagnosis was established in 17 (44 %) and heterozygous mutations were detected in 8 (21… CONTINUE READING

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