Myoclonus-Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant

被引：0

作者：

Magistrelli, Luca ^{[1
]}

Contaldi, Elena ^{[1
]}

D'Alfonso, Sandra ^{[2
]}

Corrado, Lucia ^{[2
]}

机构：

[1] ASST G Pini CTO, Parkinson Inst Milan, Milan, Italy

[2] Univ Piemonte Orientale, Ctr Autoimmune & Allerg Dis CAAD, Dept Hlth Sci, Vercelli, Italy

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2025年 / 12卷 / 01期

关键词：

TCF20; variants; myoclonus dystonia; cognitive disability; neurodevelopmental disorders;

D O I：

10.1002/mdc3.14241

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：105 / 107

页数：3

共 32 条

[21] Case report: Unilateral GPi DBS in secondary myoclonus-dystonia syndrome after acute disseminated encephalomyelitis [J].

Calvano, Alexander ;

Beccaria, Laura ;

Timmermann, Lars ;

Bopp, Miriam H. A. ;

Gjorgjevski, Marko ;

Nimsky, Christopher ;

Pedrosa, David J. .

FRONTIERS IN NEUROLOGY, 2023, 14

[22] Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7 [J].

Sheridan, M. B. ;

Telegrafi, A. Bytyci ;

Stinnett, V. ;

Umeh, C. C. ;

Mari, Z. ;

Dawson, T. M. ;

Bodurtha, J. ;

Batista, D. A. S. .

CLINICAL GENETICS, 2013, 84 (04) :368-372

[23] Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability [J].

Coughlin, David G. ;

Bardakjian, Tanya M. ;

Spindler, Meredith ;

Deik, Andres .

TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2018, 8

[24] Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons [J].

Kutschenko, Anna ;

Staege, Selma ;

Grutz, Karen ;

Glab, Hannes ;

Kalmbach, Norman ;

Gschwendtberger, Thomas ;

Henkel, Lisa M. ;

Heine, Johanne ;

Grunewald, Anne ;

Hermann, Andreas ;

Seibler, Philip ;

Wegner, Florian .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (07)

[25] Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene [J].

Giacomini, Thea ;

Vari, Maria Stella ;

Janis, Sara ;

Prato, Giulia ;

Pisciotta, Livia ;

Rocchi, Alessia ;

Michelucci, Angela ;

Di Rocco, Maja ;

Gandullia, Paolo ;

Mattioli, Girolamo ;

Sacco, Oliviero ;

Morana, Giovanni ;

Mancardi, Maria Margherita .

NEUROPEDIATRICS, 2019, 50 (05) :327-331

[26] De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome [J].

Francesco Vetrini ;

Shane McKee ;

Jill A. Rosenfeld ;

Mohnish Suri ;

Andrea M. Lewis ;

Kimberly Margaret Nugent ;

Elizabeth Roeder ;

Rebecca O. Littlejohn ;

Sue Holder ;

Wenmiao Zhu ;

Joseph T. Alaimo ;

Brett Graham ;

Jill M. Harris ;

James B. Gibson ;

Matthew Pastore ;

Kim L. McBride ;

Makanko Komara ;

Lihadh Al-Gazali ;

Aisha Al Shamsi ;

Elizabeth A. Fanning ;

Klaas J. Wierenga ;

Daryl A. Scott ;

Ziva Ben-Neriah ;

Vardiella Meiner ;

Hanoch Cassuto ;

Orly Elpeleg ;

J. Lloyd Holder ;

Lindsay C. Burrage ;

Laurie H. Seaver ;

Lionel Van Maldergem ;

Sonal Mahida ;

Janet S. Soul ;

Margaret Marlatt ;

Ludmila Matyakhina ;

Julie Vogt ;

June-Anne Gold ;

Soo-Mi Park ;

Vinod Varghese ;

Anne K. Lampe ;

Ajith Kumar ;

Melissa Lees ;

Muriel Holder-Espinasse ;

Vivienne McConnell ;

Birgitta Bernhard ;

Ed Blair ;

Victoria Harrison ;

Donna M. Muzny ;

Richard A. Gibbs ;

Sarah H. Elsea ;

Jennifer E. Posey .

Genome Medicine, 11

[27] De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome [J].

Vetrini, Francesco ;

McKee, Shane ;

Rosenfeld, Jill A. ;

Suri, Mohnish ;

Lewis, Andrea M. ;

Nugent, Kimberly Margaret ;

Roeder, Elizabeth ;

Littlejohn, Rebecca O. ;

Holder, Sue ;

Zhu, Wenmiao ;

Alaimo, Joseph T. ;

Graham, Brett ;

Harris, Jill M. ;

Gibson, James B. ;

Pastore, Matthew ;

McBride, Kim L. ;

Komara, Makanko ;

Al-Gazali, Lihadh ;

Al Shamsi, Aisha ;

Fanning, Elizabeth A. ;

Wierenga, Klaas J. ;

Scott, Daryl A. ;

Ben-Neriah, Ziva ;

Meiner, Vardiella ;

Cassuto, Hanoch ;

Elpeleg, Orly ;

Holder, J. Lloyd, Jr. ;

Burrage, Lindsay C. ;

Seaver, Laurie H. ;

Van Maldergem, Lionel ;

Mahida, Sonal ;

Soul, Janet S. ;

Marlatt, Margaret ;

Matyakhina, Ludmila ;

Vogt, Julie ;

Gold, June-Anne ;

Park, Soo-Mi ;

Varghese, Vinod ;

Lampe, Anne K. ;

Kumar, Ajith ;

Lees, Melissa ;

Holder-Espinasse, Muriel ;

McConnell, Vivienne ;

Bernhard, Birgitta ;

Blair, Ed ;

Harrison, Victoria ;

Muzny, Donna M. ;

Gibbs, Richard A. ;

Elsea, Sarah H. ;

Posey, Jennifer E. .

GENOME MEDICINE, 2019, 11 (1)

[28] An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families [J].

Koko, Mahmoud ;

Yahia, Ashraf ;

Elsayed, Liena E. ;

Hamed, Ahlam A. ;

Mohammed, Inaam N. ;

Elseed, Maha A. ;

Hamad, Muddathir H. A. ;

Babai, Arwa M. ;

Siddig, Rayan A. ;

Abd Allah, Amal S. I. ;

Mohamed, Mayada ;

EL-Amin, Melka ;

Esteves, Typhaine ;

Altmuller, Janine ;

Toliat, Mohammad Reza ;

Thiele, Holger ;

Nurnberg, Peter ;

Salih, Mustafa A. ;

Ahmed, Ammar E. ;

Lerche, Holger ;

Stevanin, Giovanni .

ANNALS OF HUMAN GENETICS, 2021, 85 (05) :186-195

[29] Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene [J].

Tabaku, Mirela ;

Tomori, Sonila ;

Dervishi, Ermira ;

Kurushi, Eriselda ;

Gjikopulli, Agim ;

Cullufi, Paskal .

GENE, 2025, 940

[30] Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review [J].

Zhao, Arman ;

Shu, Dandan ;

Zhang, Daxue ;

Yang, Bin ;

Hong, Liyi ;

Wang, Andi ;

Yao, Ruen ;

Wang, Jian ;

Lv, Haitao ;

Wang, Jian ;

Shen, Yiping ;

Wang, Hongying ;

Gu, Qin .

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2022, 82 (01) :96-103

← 1 2 3 4 →