Journal of Movement Disorders

A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor: Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo; J Mov Disord. 2020;13(1):66-68. Published online August 9, 2019; DOI: https://doi.org/10.14802/jmd.19038

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Cerebral Iron Deposition in Neurodegeneration
Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
Biomolecules.2022; 12(5): 714. CrossRef
Pathogenic mechanism and modeling of neuroferritinopathy
Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
Cellular and Molecular Life Sciences.2021; 78(7): 3355. CrossRef
Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
Frontiers in Neurology.2020;[Epub] CrossRef

Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy: So Hoon Yoon, Nan Young Kim, Yun Joong Kim, Chul Hyoung Lyoo; J Mov Disord. 2019;12(1):63-65. Published online January 30, 2019; DOI: https://doi.org/10.14802/jmd.18062

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Transcriptome Profile in the Mouse Brain of Hepatic Encephalopathy and Alzheimer’s Disease
Young-Kook Kim, Yoon Seok Jung, Juhyun Song
International Journal of Molecular Sciences.2022; 24(1): 675. CrossRef
Pathogenic mechanism and modeling of neuroferritinopathy
Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
Cellular and Molecular Life Sciences.2021; 78(7): 3355. CrossRef
A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo
Journal of Movement Disorders.2020; 13(1): 66. CrossRef
Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
Frontiers in Neurology.2020;[Epub] CrossRef
Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration
Barry B. Muhoberac, Ruben Vidal
Frontiers in Neuroscience.2019;[Epub] CrossRef

Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report: Min Ki Kim, Nan Young Kim, Sangkyoon Hong, Hyeo-Il Ma, Yun Joong Kim; J Mov Disord. 2017;10(3):161-163. Published online September 12, 2017; DOI: https://doi.org/10.14802/jmd.17044

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Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration
Takahiro Shimizu, Norito Tamura, Taki Nishimura, Chieko Saito, Hayashi Yamamoto, Noboru Mizushima
Human Molecular Genetics.2023; 32(16): 2623. CrossRef
Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
Neurobiology of Disease.2022; 175: 105920. CrossRef
WDR45, one gene associated with multiple neurodevelopmental disorders
Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
Autophagy.2021; 17(12): 3908. CrossRef

Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes: Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn; J Mov Disord. 2017;10(1):53-58. Published online December 27, 2016; DOI: https://doi.org/10.14802/jmd.16044

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Abstract PDF Supplementary Material

Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.

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Hyperekplexia: A Single-Center Experience
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Journal of Child Neurology.2024; 39(7-8): 260. CrossRef
Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes
Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Martina Ricci, Ilaria Venezia, Luigi Citrigno, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Domenica Immacolata Battaglia
Pediatric Neurology.2022;[Epub] CrossRef
Paroxysmal Nonepileptic Events in Children
Ilaria Lagorio, Lorenzo Brunelli, Pasquale Striano
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Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
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Parkinsonism & Related Disorders.2022; 105: 128. CrossRef
Advances in hyperekplexia and other startle syndromes
Fei-xia Zhan, Shi-Ge Wang, Li Cao
Neurological Sciences.2021; 42(10): 4095. CrossRef
A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
Annibale Antonioni, Giovanni Peschi, Enrico Granieri
Frontiers in Neurology.2020;[Epub] CrossRef
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
Feixia Zhan, Chao Zhang, Shige Wang, Zeyu Zhu, Guang Chen, Mingliang Zhao, Li Cao
Journal of Clinical Neurology.2020; 16(2): 230. CrossRef
C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia
Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin
Medicine.2020; 99(17): e19968. CrossRef
Hyperekplexia and other startle syndromes
Arushi Gahlot Saini, Sanjay Pandey
Journal of the Neurological Sciences.2020; 416: 117051. CrossRef
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
BMC Medical Genetics.2019;[Epub] CrossRef
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
Seizure.2018; 58: 6. CrossRef
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
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BMC Medical Genetics.2017;[Epub] CrossRef

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