Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

• Published in: Cells (Basel, Switzerland) Vol. 12; no. 13; p. 1737
• Main Authors: Ng, Joanne, Barral, Serena, Waddington, Simon N, Kurian, Manju A
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 28.06.2023; MDPI
• Subjects: Amino acid sequence; Attention deficit hyperactivity disorder; Autism; Basal ganglia; Bipolar disorder; Care and treatment; Cell surface; Central nervous system diseases; Cerebrospinal fluid; Children; Communication; DAT; Diagnosis; Dopamine; Dopamine Plasma Membrane Transport Proteins - genetics; Dopamine transporter; dopamine transporter deficiency syndrome; Drug therapy; Dyskinesia; Dystonia; Gene therapy; Genomic analysis; Genotype & phenotype; Glycosylation; infantile parkinsonism-dystonia; Mental disorders; Methods; Movement disorders; Neurodegeneration; Neurological diseases; neurotransmitter; Orthopedics; Ostomy; Parkinson's disease; Phenotype; Phenotypes; Precision Medicine; Protein transport; Review; SLC6A3; Tremor (Muscular contraction); United Kingdom; DAT; iPSC; gene therapy; infantile parkinsonism-dystonia; neurotransmitter; SLC6A3; dopamine transporter deficiency syndrome

Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the gene. Advances in genomic analysis have revealed an evolving spectrum of -related neurological and neuropsychiatric...