Journal of Movement Disorders

Brief communication

Movement Disorders Resulting From Bilateral Basal Ganglia Lesions in End-Stage Kidney Disease: A Systematic Review: Kah Hui Yap, Nurul Husna Baharudin, Abdul Halim Abdul Gafor, Rabani Remli, Shen-Yang Lim, Wan Asyraf Wan Zaidi, Shahrul Azmin, Shahizon Azura Mohamed Mukari, Raihanah Abdul Khalid, Norlinah Mohamed Ibrahim; J Mov Disord. 2022;15(3):258-263. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21185

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Abstract PDF Supplementary Material: Objective
The basal ganglia (BG) are susceptible to fluctuations in blood urea levels, sometimes resulting in movement disorders. We described patients with end-stage kidney disease (ESKD) presenting with movement disorders associated with bilateral BG lesions on imaging.
Methods
We report four patients and systematically reviewed all published cases of ESKD presenting with movement disorders and bilateral BG lesions (EBSCOhost and Ovid).
Results
Of the 72 patients identified, 55 (76.4%) were on regular dialysis. Parkinsonism was the most common movement disorder (n = 39; 54.2%), followed by chorea (n = 24; 33.3%). Diabetes mellitus (n = 51; 70.8%) and hypertension (n = 16; 22.2%) were the most common risk factors. Forty-three (59.7%) were of Asian ethnicity. Complete clinical resolution was reported in 17 (30.9%) patients, while 38 (69.1%) had incomplete clinical resolution with relapse. Complete radiological resolution occurred in 14 (34.1%) patients.
Conclusion
Movement disorders associated with BG lesions should be recognized as a rare and potentially reversible metabolic movement disorder in patients with ESKD.

Case Report

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review: Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim; J Mov Disord. 2022;15(2):162-166. Published online December 24, 2021; DOI: https://doi.org/10.14802/jmd.21120

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Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Citations

Citations to this article as recorded by

Case report: Spontaneous improvement and treatment considerations in leukoencephalopathy with calcifications and cysts
Shanice Beerepoot, Hilko Ardon, Anneke Niers, Marjo S. van der Knaap
Clinical Neurology and Neurosurgery.2024; 245: 108517. CrossRef
Leukoencephalopathy, calcifications, and cysts: Labrune syndrome
Andrew Waack, Jordan Norris, Kathryn Becker, Alastair Hoyt, Jason Schroeder
Radiology Case Reports.2023; 18(2): 584. CrossRef
Leukoencephalopathy with calcifications and cysts: A case report with literature review
Jingya Li, Chun Li, Qing Zhang, Chao Qiu
Neurological Sciences.2023; 44(8): 2715. CrossRef
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
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Journal of Movement Disorders.2023; 16(2): 115. CrossRef
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
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Genes.2023; 14(9): 1817. CrossRef
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
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Frontiers in Neurology.2023;[Epub] CrossRef

Letter to the editor

Anti-GABA_B Receptor Encephalitis Presenting with Atypical Corticobasal Syndrome in a Patient with Parkinson’s Disease: Noor Sharizat Abdullah, Tan Hui Jan, Rabani Remli, Shahizon Azura Mohamad Mukari, Norlinah Mohamed Ibrahim; J Mov Disord. 2020;13(3):235-237. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20011

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2 Web of Science
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Citations

Citations to this article as recorded by

Neural Surface Antibodies and Neurodegeneration: Clinical Commonalities and Pathophysiological Relationships
Maria Pia Giannoccaro, Federico Verde, Luana Morelli, Giovanni Rizzo, Fortuna Ricciardiello, Rocco Liguori
Biomedicines.2023; 11(3): 666. CrossRef
Neuronal Antibody-Associated Corticobasal Syndrome
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Annals of Indian Academy of Neurology.2023; 26(5): 787. CrossRef

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