Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up

Margherita Baga

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Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up

机译：早期的多巴胺转运蛋白缺乏综合症：长期随访

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Solute Carrier Family 6 Member 3 (SLC6A3) gene encodes the sodium-dependent dopamine transporter, terminating dopamine action by high-affinity reuptake into presynaptic terminals. Pathogenic SLC6A3 variants cause dopamine transporter deficiency syndrome (DTDS), an autosomal recessive complex movement disorder (MD). Classic early-onset and atypical later-onset forms are known.1,2 In classic DTDS, infants manifest non-specific findings (irritability, feeding difficulties, axial hypotonia, and delayed motor development), followed by hyperkinetic MD (chorea, dysto-nia, ballismus, and orolingual dyskinesia). Over time, parkinsonism-dystonia develops. Secondary orthopedic, gastrointestinal, and respiratory complications are common.

机译：溶质载体家族6成员3（SLC6A3）基因编码钠依赖性多巴胺转运体，通过高亲和力再摄取到突触前终末来终止多巴胺的作用。致病性SLC6A3变异导致多巴胺转运体缺乏综合征（DTDS），一种常染色体隐性复杂运动障碍（MD）。已知典型早发型和非典型晚发型。1,2在典型的DTD中，婴儿表现出非特异性表现（易怒、喂养困难、轴性肌张力减退和运动发育迟缓），其次是多动性MD（舞蹈病、肌营养不良、ballismus和口语运动障碍）。随着时间的推移，帕金森病肌张力障碍会发展。继发性骨科、胃肠道和呼吸系统并发症很常见。

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来源
《The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques》 |2021年第2期|共2页
作者
Margherita Baga;
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作者单位

Department of Pediatrics Child Neurology Unit AUSL-IRCCS di Reggio Emilia Reggio Emilia Italy;

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原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
关键词
SLC6A3; Dopamine transporter; Dystonia; Juvenile; Parkinsonism;

机译：SLC6A3;多巴胺转运蛋白;Dystonia;少年;帕金森主义;

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2. Long-term bone and lung consequences associated with hospital-acquired severe acute respiratory syndrome:a 15-year follow-up from a prospective cohort study [J] . Peixun Zhang, Yali Zheng, Zhancheng Gao, 骨研究（英文版） . 2020,第001期
3. Long-term bone and lung consequences associated with hospital-acquired severe acute respiratory syndrome:a 15-year follow-up from a prospective cohort study [J] . Peixun Zhang, Jia Li, Huixin Liu, 骨研究：英文 . 2020,第001期
4. Long-term follow-up of antithrombotic management patterns in patients with acute coronary syndrome in China [J] . Xiao-Ning HAN, Shu-Bin QIAO, Jun-Bo GE, 老年心脏病学杂志（英文版） . 2020,第005期
5. Preliminary association of both the Dopamine D2 Receptor (DRD2) [Taq1 A1 Allele] and the Dopamine Transporter (DAT1) [480 bp Allele] genes with pathological aggressive behavior, a clinical subtype of Reward Deficiency Syndrome (RDS) in adolescents [J] . Dr. Kenneth, Blum Gene Therapy and Molecular Biology . 2007,第4期

机译：多巴胺D2受体（DRD2）[Taq1 A1等位基因]和多巴胺转运蛋白（DAT1）[480 bp等位基因]基因与病理攻击行为（青少年奖励缺乏综合征（RDS）的临床亚型）之间的初步关联
6. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. [J] . Booij J, van Amelsvoort T, Boot E American journal of medical genetics, Part A . 2010,第11期

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7. Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene [J] . Tullio Messana, Angelo Russo, Raffaella Vergaro, Journal of pediatric neurosciences . 2018,第4期

机译：1型葡萄糖转运蛋白缺乏症综合征：SLC2A1基因的新型突变中的发育延迟和早发共济失调
8. Improving Fuzzy Syndrome Differentiation for Deficiency Syndromes in Traditional Chinese Medicine [C] . Po-Shen Lin, Nai-Wei Lin, Ming-Hsien Yeh, IEEE International Conference on Consumer Electronics - Taiwan . 2020

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9. The short- and long-term effects of chronic late postnatal blockade of the dopamine transporter on cerebral glucose utilization and dopamine D(1)/D(2) receptors in the rat brain. [D] . Frick, Glen Steven. 1998

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12. Longterm Follow-up of Patients in CSP Number 298 , Treatment of Patients with'Acquired Immune Deficiency Syndrome (AIDS) and AIDS related Complex' [R] . Simberkoff, M. S., Hartigan, P. M., Hamilton, J. D. 1994

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Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up

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