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

Cells - 28 Jun 2023

Ng Joanne, Barral Serena, Waddington Simon N, Kurian Manju A

Abstract excerpt

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 SLC6A3 gene. Advances in genomic analysis have revealed an evolving spectrum of SLC6A3-related neurological and neuropsychiatric disorders. Since the initial clinical and genetic characterisation of DTDS in 2009, there have been...

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Identifiers

PMID: 37443770
DOI: 10.3390/cells12131737
PMCID: PMC10341083

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