Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

@article{Koh2018NovelMI,
  title={Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment},
  author={Kishin Koh and Hiroyuki Ishiura and Minako Beppu and Haruo Shimazaki and Yuta Ichinose and Jun Mitsui and Satoshi Kuwabara and Shoji Tsuji and Yoshihisa Takiyama},
  journal={Journal of Human Genetics},
  year={2018},
  volume={63},
  pages={1009-1013}
}
Hereditary spastic paraplegias (HSPs) are characterized by various inherited disorders in which weakness and spasticity of the lower extremities are the predominant symptoms. Recently, HSP caused by ALDH18A1 mutations has been reported as SPG9 with autosomal dominant (SPG9A) and autosomal recessive (SPG9B) transmission. In this study, we obtained clinical and genetic findings in two Japanese families with SPG9B. One family had a novel compound heterozygous mutation (c.1321 C > T/c.1994G > A) in… 
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