Výsledky vyhledávání - "Infantile Parkinsonism"

Akademický článek

Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report

Autor: Zoe Maria Dominique Reyes, Emma Lynch, Julia Henry, Lenika Marina De Simone, Sarah A. Sobotka

Publikováno v: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)

Abstract Background Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have impr

Externí odkaz: https://doaj.org/article/764bac43ed6746b6b1524a0f2e73df9c

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Akademický článek

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

Autor: Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian

Publikováno v: Cells, Vol 12, Iss 13, p 1737 (2023)

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 evolvi

Externí odkaz: https://doaj.org/article/13b27937304742a694aef2d5149af478

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Akademický článek

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

Autor: Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny

Publikováno v: JIMD Reports, Vol 53, Iss 1, Pp 12-15 (2020)

Abstract Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age

Externí odkaz: https://doaj.org/article/82868084e2f44a63a8950188325d5bc4

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The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Publikováno v: Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. Methods: Patients were recruited from 14 internat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52a833a18ac97e7e86869c9abdc0d05
https://doi.org/10.1002/mds.29182

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Akademický článek

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Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Publikováno v: Parkinsonism & related disorders 72 (2020): 75–79. doi:10.1016/j.parkreldis.2020.02.003
info:cnr-pdr/source/autori:Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A.; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo/titolo:Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism/doi:10.1016%2Fj.parkreldis.2020.02.003/rivista:Parkinsonism & related disorders/anno:2020/pagina_da:75/pagina_a:79/intervallo_pagine:75–79/volume:72

Objective To investigate the molecular cause(s) underlying a severe form of infantile-onset parkinsonism and characterize functionally the identified variants. Methods A trio-based whole exome sequencing (WES) approach was used to identify the candid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e750dcab6b5e7a1b6ab8d5c5c98db0a
https://doi.org/10.1016/j.parkreldis.2020.02.003

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Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

Autor: Beat Thöny, Sunita Bijarnia-Mahay, Vivek Jain

Publikováno v: JIMD Reports, Vol 53, Iss 1, Pp 12-15 (2020)
JIMD Reports

Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea2e788ff4281030c13a2df55ea4a3c
https://doi.org/10.1002/jmd2.12111

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