Dystonic tremor and blepharospasm in a patient with deletion of 18q

被引：1

作者：

Tereshko, Yan ^{[1
]}

Belgrado, Enrico ^{[2
]}

Lettieri, Christian ^{[2
]}

Passon, Nadia ^{[3
]}

Damante, Giuseppe ^{[3
]}

Gigli, Gian Luigi ^{[1
]}

Valente, Mariarosaria ^{[1
]}

机构：

[1] Udine Univ Hosp, Clin Neurol Unit, Piazzale St Maria Misericordia 15, I-33100 Udine, Italy

[2] Udine Univ Hosp, Neurol Unit, Piazzale St Maria Misericordia 15, I-33100 Udine, Italy

[3] Udine Univ Hosp, Inst Med Genet, Piazzale St Maria Misericordia 15, I-33100 Udine, Italy

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 2023年 / 224卷

关键词：

18q-syndrome; 18q-deletion; Dystonia; Tremor;

D O I：

10.1016/j.clineuro.2022.107549

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

18q-Syndrome is a rare chromosomic syndrome where neurological involvement is scarcely described. Move-ment disorders are rare and only one case with dystonia was described. In our paper, we describe the second report of a patient with 18q-Syndrome, blepharospasm, and dystonic tremor of his right hand and hyperthy-roidism instead of hypothyroidism.

引用

页数：3

共 10 条

[1] KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment [J].

Aksoy, Ayse ;

Koken, Ozlem Yayici ;

Ceylan, Ahmet Cevdet ;

Dedeoglu, Ozge Toptas .

MOLECULAR SYNDROMOLOGY, 2021, :159-164

[2] Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen [J].

Awaad, Y ;

Munoz, S ;

Nigro, M .

JOURNAL OF CHILD NEUROLOGY, 1999, 14 (02) :75-77

[3] SHIVERER - AN AUTOSOMAL RECESSIVE MUTANT MOUSE WITH MYELIN DEFICIENCY [J].

CHERNOFF, GF .

JOURNAL OF HEREDITY, 1981, 72 (02) :128-128

[4] Consequences of chromsome18q deletions [J].

Cody, Jannine D. ;

Sebold, Courtney ;

Heard, Patricia ;

Carter, Erika ;

Soileau, Bridgette ;

Hasi-Zogaj, Minire ;

Hill, Annice ;

Rupert, David ;

Perry, Brian ;

O'Donnell, Louise ;

Gelfond, Jon ;

Lancaster, Jack ;

Fox, Peter T. ;

Hale, Daniel E. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2015, 169 (03) :265-280

[5] Spectrum of Movement Disorders in 18p Deletion Syndrome [J].

Crosiers, David ;

Blaumeiser, Bettina ;

Van Goethem, Gert .

MOVEMENT DISORDERS CLINICAL PRACTICE, 2019, 6 (01) :70-73

[6] DYSTONIA IN A PATIENT WITH DELETION OF 18Q [J].

GORDON, MF ;

BRESSMAN, S ;

BRIN, MF ;

DELEON, D ;

WARBURTON, D ;

YEBOA, K ;

FAHN, S .

MOVEMENT DISORDERS, 1995, 10 (04) :496-499

[7]

Goyal M, 2017, CONTEMP CLIN DENT, V8, P632, DOI 10.4103/ccd.ccd_129_17

[8] ORGANIZATION AND EXPRESSION OF THE HUMAN MYELIN BASIC-PROTEIN GENE [J].

KAMHOLZ, J ;

TOFFENETTI, J ;

LAZZARINI, RA .

JOURNAL OF NEUROSCIENCE RESEARCH, 1988, 21 (01) :62-70

[9] Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q-Syndrome: A Case Report and Literature Review [J].

Liu, Shanshan ;

Chen, Meiping ;

Yang, Hongbo ;

Chen, Shi ;

Wang, Linjie ;

Duan, Lian ;

Zhu, Huijuan ;

Pan, Hui .

FRONTIERS IN ENDOCRINOLOGY, 2021, 12

[10] Update on KMT2B-Related Dystonia [J].

Zech, Michael ;

Lam, Daniel D. ;

Winkelmann, Juliane .

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2019, 19 (11)

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