Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022)

被引：1

作者：

Park, Joohyun ^{[1
]}

Tucci, Arianna ^{[2
]}

Cipriani, Valentina ^{[2
,3
,4
,5
]}

Demidov, German ^{[1
]}

Rocca, Clarissa ^{[6
]}

Senderek, Jan ^{[7
]}

Butryn, Michaela ^{[8
]}

Velic, Ana ^{[9
]}

Lam, Tanya ^{[10
,11
]}

Galanaki, Evangelia ^{[6
]}

Cali, Elisa ^{[6
]}

Vestito, Letizia ^{[2
]}

Maroofian, Reza ^{[6
]}

Deininger, Natalie ^{[1
]}

Rautenberg, Maren ^{[1
]}

Admard, Jakob ^{[1
]}

Hahn, Gesa-Astrid ^{[12
]}

Bartels, Claudius ^{[13
]}

van Os, Nienke J. H. ^{[14
]}

Horvath, Rita ^{[15
]}

Chinnery, Patrick F. ^{[15
,16
,17
]}

Tiet, May Yung ^{[15
]}

Hewamadduma, Channa ^{[18
,19
]}

Hadjivassiliou, Marios ^{[19
,20
]}

Downes, Susan M. ^{[21
,22
]}

Nemeth, Andrea H. ^{[23
,24
]}

Wood, Nicholas W. ^{[25
]}

Hayer, Stefanie N. ^{[26
,27
,28
]}

Bender, Friedemann ^{[26
,27
,28
]}

Menden, Benita ^{[1
]}

Cordts, Isabell ^{[29
]}

Klein, Katrin ^{[1
]}

Nguyen, Huu Phuc ^{[30
]}

Krauss, Joachim K. ^{[31
]}

Blahak, Christian ^{[32
,33
]}

Strom, Tim M. ^{[34
,35
]}

Sturm, Marc ^{[38
]}

van de Warrenburg, Bart ^{[14
]}

Lerche, Holger ^{[36
]}

Macek, Boris ^{[9
]}

Synofzik, Matthis ^{[27
]}

Ossowski, Stephan ^{[1
]}

Timmann, Dagmar ^{[37
]}

Wolf, Marc E.

Smedley, Damian ^{[2
]}

Riess, Olaf ^{[1
,39
]}

Schols, Ludger ^{[39
]}

Houlden, Henry ^{[2
]}

Haack, Tobias B. ^{[1
,39
]}

Hengel, Holger ^{[1
,26
,28
]}

机构：

[1] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[2] Queen Mary Univ London, William Harvey Res Inst, Fac Med & Dent, London, England

[3] UCL, UCL Inst Ophthalmol, London, England

[4] Moorfields Eye Hosp NHS Fdn Trust, London, England

[5] UCL, UCL Genet Inst, London, England

[6] UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

[7] Ludwig Maximilian Univ Munich, Univ Hosp, Friedrich Baur Inst, Dept Neurol, Munich, Germany

[8] German Ctr Neurodegenerat Dis DZNE, Magdeburg, Germany

[9] Univ Tubingen, Proteome Ctr Tubingen, Tubingen, Germany

[10] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[11] St Georges Hosp NHS Trust, London, England

[12] CeGaT GmbH, Ctr Genom & Transcript, Tubingen, Germany

[13] Otto Von Guericke Univ, Dept Neurol, Magdeburg, Germany

[14] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Ctr Expertise Parkinson & Movement Disorders, Dept Neurol,Med Ctr, Nijmegen, Netherlands

[15] Univ Cambridge, John Van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England

[16] Univ Cambridge, MRC Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge, England

[17] Univ Cambridge, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England

[18] Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Sheffield, England

[19] Royal Hallamshire Hosp, Sheffield Teaching Hosp NHS Fdn Trust, Dept Rheumatol, Sheffield, England

[20] Sheffield Teaching Hosp NHS Trust, Acad Dept Neurosci, Sheffield, England

[21] Univ Oxford, Nuffield Dept Clin Neurosci, Nuffield Lab Ophthalmol, Oxford, England

[22] Oxford Univ Hosp NHS Fdn Trust, Oxford Eye Hosp, Oxford, England

[23] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England

[24] Oxford Univ Hosp NHS Trust, Oxford Ctr Genom Med, Oxford, England

[25] UCL, UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England

[26] Univ Tubingen, Ctr Neurol, Dept Neurodegenerat, Tubingen, Germany

[27] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

[28] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany

[29] Tech Univ Munich TUM, Dept Neurol, Klinikum Rechts Isar, Munich, Germany

[30] Ruhr Univ Bochum, Med Fac, Dept Human Genet, Bochum, Germany

[31] Hannover Med Sch, Dept Neurosurg, Hannover, Germany

[32] Ortenau Klinikum Lahr Ettenheim, Dept Neurol, Lahr, Germany

[33] Heidelberg Univ, Univ Med Mannheim, Med Fac Mannheim, Dept Neurol, Mannheim, Germany

[34] Tech Univ Munich, Inst Human Genet, Munich, Germany

[35] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany

[36] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany

[37] Univ Duisburg Essen, Dept Neurol, Essen, Germany

[38] Klinikum Stuttgart, Dept Neurol, Stuttgart, Germany

[39] Univ Lubeck, Ctr Rare Dis, Lubeck, Germany

来源：

GENETICS IN MEDICINE | 2023年 / 25卷 / 10期

关键词：

D O I：

10.1016/j.gim.2023.100961

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：2

共 5 条

[1] Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, Joohyun
Tucci, Arianna
Cipriani, Valentina
Demidov, German
Rocca, Clarissa
Senderek, Jan
Butryn, Michaela
Velic, Ana
Lam, Tanya
Galanaki, Evangelia
Cali, Elisa
Vestito, Letizia
Maroofian, Reza
Deininger, Natalie
Rautenberg, Maren
Admard, Jakob
Hahn, Gesa-Astrid
Bartels, Claudius
van Os, Nienke J. H.
Horvath, Rita
Chinnery, Patrick F.
Tiet, May Yung
Hewamadduma, Channa
Hadjivassiliou, Marios
Tofaris, George K.
Wood, Nicholas W.
Hayer, Stefanie N.
Bender, Friedemann
Menden, Benita
Cordts, Isabell
Klein, Katrin
Huu Phuc Nguyen
Krauss, Joachim K.
Blahak, Christian
Strom, Tim M.
Sturm, Marc
van de Warrenburg, Bart
Lerche, Holger
Macek, Boris
Synofzik, Matthis
Ossowski, Stephan
Timmann, Dagmar
Wolf, Marc E.
Smedley, Damian
Riess, Olaf
Schoels, Ludger
Houlden, Henry
Haack, Tobias B.
Hengel, Holger
[J]. GENETICS IN MEDICINE, 2022, 24 (10) : 2079 - 2090
[2] Heterozygous UCHL1 is a novel cause of autosomal dominant neurodegeneration with spasticity, ataxia, neuropathy, and optic atrophy
Park, Joohyun
Tucci, Arianna
Cipriani, Valentina
Demidov, German
Rocca, Clarissa
Senderek, Jan
Butryn, Michaela
Velic, Ana
Lam, Tanya
Galanaki, Evangelia
Cali, Elisa
Vestito, Letizia
Maroofian, Reza
Deininger, Natalie
Rautenberg, Maren
Admard, Jakob
Hahn, Gesa-Astrid
Bartels, Claudius
van Os, Nienke
Horvath, Rita
Chinnery, Patrick
Tiet, May Yung
Hewamadduma, Channa
Hadjivassiliou, Marios
Tofaris, George K.
Wood, Nicholas
Hayer, Stefanie Nicole
Bender, Friedemann
Menden, Benita
Cordts, Isabell
Krauss, Joachim K.
Blahak, Christian
Strom, Tim
Sturm, Marc
De Warrenburg, Bart Van
Lerche, Holger
Macek, Boris
Synofzik, Matthis
Ossowski, Stephan
Timmann-Braun, Dagmar
Wolf, Marc
Damien, Smedley
Riess, Olaf
Schoels, Ludger
Hengel, Holger
Houlden, Henry
Haack, Tobias
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 478 - 480
[3] Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability (vol 92, pg 430, 2017)
Helbig, K. L.
Mroske, C.
Moorthy, D.
Sajan, S. A.
Velinov, M.
[J]. CLINICAL GENETICS, 2018, 93 (05) : 1117 - 1117
[4] mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion (vol 145, pg 1939, 2022)
Calhoun, Jeffrey D.
Aziz, Miriam C.
Happ, Hannah C.
Gunti, Jonathan
Gleason, Colleen
Mohamed, Najma
Zeng, Kristy
Hiller, Meredith
Bryant, Emily
Mithal, Divakar S.
Bellinski, Irena
Kinsley, Lisa
Grimmel, Mona
Schwaibold, Eva M. C.
Smith-Hicks, Constance
Chassevent, Anna
Scala, Marcello
Accogli, Andrea
Torella, Annalaura
Striano, Pasquale
Capra, Valeria
Bird, Lynne M.
Ben-Sahra, Issam
Ekhilevich, Nina
Hershkovitz, Tova
Weiss, Karin
Millichap, John
Gerard, Elizabeth E.
Carvill, Gemma L.
[J]. BRAIN, 2023, 146 (08) : E61 - E61
[5] CAOS-Episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: A third allelic disorder of the ATP1A3 gene (vol 30, pg 1749, 2015)
Heimer, G.
Sadaka, Y.
Israelian, L.
Feiglin, A.
Ruggieri, A.
Marshall, C. R.
Scherer, S. W.
Ganelin-Cohen, E.
Marek-Yagel, D.
Tzadok, M.
Nissenkorn, A.
Anikster, Y.
Minassian, B. A.
Zeev, B. B.
[J]. JOURNAL OF CHILD NEUROLOGY, 2018, 33 (13) : 870 - 870

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