2023
DOI: 10.3390/cells12071046
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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

Abstract: The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal. Triome whole-genome sequencing revealed a homozygous variant (c.110C>A, (p.T37K)) in DRD1, encoding the m… Show more

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“…Mutations in five genes (GCH1, TH, PTS, SPR, and QDPR) that lead to disruption of the synthesis of dopamine are causative for dystonia [24][25][26][27][28]. Also upstream of Gα olf , mutations in the D1 dopamine receptor (DRD1) are linked to infantile parkinsonism-dystonia and tardive-like dystonia [29,30]. Downstream of Gα olf , there are dystonia associated mutations in ADCY5, encoding adenylate cyclase 5, the enzyme responsible for the second messenger cAMP [31].…”
Section: Signaling Partners Of Gα Olf Also Are Associated With Dystoniamentioning
confidence: 99%
“…Mutations in five genes (GCH1, TH, PTS, SPR, and QDPR) that lead to disruption of the synthesis of dopamine are causative for dystonia [24][25][26][27][28]. Also upstream of Gα olf , mutations in the D1 dopamine receptor (DRD1) are linked to infantile parkinsonism-dystonia and tardive-like dystonia [29,30]. Downstream of Gα olf , there are dystonia associated mutations in ADCY5, encoding adenylate cyclase 5, the enzyme responsible for the second messenger cAMP [31].…”
Section: Signaling Partners Of Gα Olf Also Are Associated With Dystoniamentioning
confidence: 99%