Rett syndrome: The state of clinical and basic research, and future perspectives

  title={Rett syndrome: The state of clinical and basic research, and future perspectives},
  author={Toyojiro Matsuishi and Yushiro Yamashita and Tomoyuki Takahashi and Shinichiro Nagamitsu},
  journal={Brain and Development},
To clarify the pathophysiology of brain and spinal cord impairment in Rett syndrome (RTT), we report on the current status of research on Rett syndrome and review the abnormalities reported in neurotransmitters, neuromodulators and other biological markers in patients with RTT. We have previously investigated the levels of various factors in the blood, plasma, and cerebrospinal fluid (CSF) of RTT patients, including biogenic amines, lactate, melatonin, pyruvate and other citric acid cycle… CONTINUE READING


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