title: Neural stem cell transplantation for the treatment of primary torsion dystonia: A case report.
abstract: Primary torsion dystonia (PTD) occurs due to a genetic mutation and often advances gradually. Currently, there is no therapy available that is able to inhibit progression. Neural stem cells (NSCs) are being investigated as potential therapies for neurodegenerative diseases, such as stroke and trauma. The present study evaluated the clinical effectiveness of NSC transplantation in an 18-year-old male patient with PTD, to assess the ability of this therapy to inhibit PTD progression. Genetic testing of the patient revealed a mutation in the torsion dystonia-1 (DYT1) gene (907-909 delGAG). NSCs were bilaterally implanted in the globus pallidus of the patient through stereotactic surgery. Prior to surgery, the patient's Burke-Fahn-Marsden dystonia movement score (BFMDMS) was 21, which progressively decreased after surgery to 18, 17, 15 and 13 at 1, 2, 3 and 4 postoperative years, respectively. BFMDMS was improved by 38.1% over the 4 postoperative years. Although computed tomography and magnetic resonance imaging examinations showed no significant changes prior to and following surgery, postoperative brain positron emission tomography scans revealed increased glucose metabolism in the transplanted region. The clinical efficacy of NSC transplantation in this patient suggests its potential for the treatment ofDYT1-positive patients with PTD.
authors.affiliation: Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Wen-Qing
authors.initials: WQ
authors.lastname: Ren
authors.affiliation: Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Feng
authors.initials: F
authors.lastname: Yin
authors.affiliation: Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Jian-Ning
authors.initials: JN
authors.lastname: Zhang
authors.affiliation: Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Wang-Sheng
authors.initials: WS
authors.lastname: Lu
authors.affiliation: PET Center, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Ying-Kui
authors.initials: YK
authors.lastname: Liang
authors.affiliation: Department of Pure and Applied Biochemistry, Lund University, Lund, 22100 Scania, Sweden.
authors.forename: Josefin
authors.initials: J
authors.lastname: Adlerberth
authors.affiliation: Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Zeng-Min
authors.initials: ZM
authors.lastname: Tian
keywords: frameless stereotactic surgery; neural stem cells; primary torsion spasm; torsion dystonia-1; transplantation