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Page 1
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Ng J, Barral S, Waddington SN, Kurian MA. Ng J, et al. Mov Disord. 2023 Jun;38(6):924-936. doi: 10.1002/mds.29416. Epub 2023 May 5. Mov Disord. 2023. PMID: 37147851 Free PMC article. Review.
Here, we review recent advances in gene therapy, focused on the targeted delivery of dopaminergic genes for Parkinson's disease and the primary neurotransmitter disorders, AADC deficiency and dopamine transporter deficiency syndrome (DTDS). Although re …
Here, we review recent advances in gene therapy, focused on the targeted delivery of dopaminergic genes for Parkinson's disease and the prim …
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Ng J, Barral S, De La Fuente Barrigon C, Lignani G, Erdem FA, Wallings R, Privolizzi R, Rossignoli G, Alrashidi H, Heasman S, Meyer E, Ngoh A, Pope S, Karda R, Perocheau D, Baruteau J, Suff N, Antinao Diaz J, Schorge S, Vowles J, Marshall LR, Cowley SA, Sucic S, Freissmuth M, Counsell JR, Wade-Martins R, Heales SJR, Rahim AA, Bencze M, Waddington SN, Kurian MA. Ng J, et al. Sci Transl Med. 2021 May 19;13(594):eaaw1564. doi: 10.1126/scitranslmed.aaw1564. Sci Transl Med. 2021. PMID: 34011628 Free PMC article.
Precision medicine has great potential to address this unmet clinical need. We explored this paradigm in dopamine transporter deficiency syndrome (DTDS), caused by biallelic loss-of-function mutations in SLC6A3, encoding the dopamine transporter (DAT). …
Precision medicine has great potential to address this unmet clinical need. We explored this paradigm in dopamine transporter …
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA. Reid KM, et al. Cells. 2023 Mar 30;12(7):1046. doi: 10.3390/cells12071046. Cells. 2023. PMID: 37048120 Free PMC article.
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. ...
Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia …
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
Balint B, Bhatia KP. Balint B, et al. Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29. Eur J Neurol. 2015. PMID: 25643588 Review.
Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 m …
Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of chi …
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Ng J, et al. Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10. Brain. 2014. PMID: 24613933 Free PMC article.
Patients presenting with parkinsonism dystonia or a neurotransmitter profile characteristic of dopamine transporter deficiency syndrome were recruited for study. ...We identified eight new patients from five unrelated families with dopamine t …
Patients presenting with parkinsonism dystonia or a neurotransmitter profile characteristic of dopamine transporter deficie …
Infantile parkinsonism-dystonia: a dopamine "transportopathy".
Blackstone C. Blackstone C. J Clin Invest. 2009 Jun;119(6):1455-8. doi: 10.1172/jci39632. J Clin Invest. 2009. PMID: 19504720 Free PMC article.
In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). ...
In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by …
A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.
Illiano P, Lanzo A, Leo D, Paglione M, Zampi G, Gainetdinov RR, Di Schiavi E. Illiano P, et al. Eur J Neurosci. 2017 Jan;45(1):207-214. doi: 10.1111/ejn.13366. Epub 2016 Sep 2. Eur J Neurosci. 2017. PMID: 27519790
Dopamine transporter deficiency syndrome (DTDS) is a novel autosomal recessive disorder caused by mutations in the dopamine transporter (DAT), which leads to the partial or total loss of function of the protein. ...
Dopamine transporter deficiency syndrome (DTDS) is a novel autosomal recessive disorder caused by mutations in t …
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Aguilar JI, Cheng MH, Font J, Schwartz AC, Ledwitch K, Duran A, Mabry SJ, Belovich AN, Zhu Y, Carter AM, Shi L, Kurian MA, Fenollar-Ferrer C, Meiler J, Ryan RM, Mchaourab HS, Bahar I, Matthies HJ, Galli A. Aguilar JI, et al. Elife. 2021 May 18;10:e68039. doi: 10.7554/eLife.68039. Elife. 2021. PMID: 34002696 Free PMC article.
Dopamine (DA) transporter (DAT) deficiency syndrome (DTDS) is a distinct type of infantile parkinsonism-dystonia that shares key clinical features with PD, including motor deficits (progressive bradykinesia, tremor, hypomimia) and altered DA neurotransmission …
Dopamine (DA) transporter (DAT) deficiency syndrome (DTDS) is a distinct type of infantile parkinsonism-dystonia that s …
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. Mir A, et al. Hum Genet. 2022 Jan;141(1):81-99. doi: 10.1007/s00439-021-02404-x. Epub 2021 Nov 19. Hum Genet. 2022. PMID: 34797406
Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to h …
Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with …
20 results