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Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy

To identify the key insights or developments described in this article
1 Credit CME

A 31-year-old woman was referred to our outpatient clinic for frequent seizures that were becoming more difficult to control. The patient had tonic-clonic seizure onset at the age of 27 years, and her condition gradually progressed despite treatment with carbamazepine. She experienced vision impairment at the age of 11 years, and her vision level decreased to only light perception OU within a few years. During this time, she developed an unsteady walking pattern and ambiguous speech.

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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.

Article Information

Corresponding Author: Pengfei Lin, MD, PhD, Department of Neurology, Qilu Hospital of Shandong University, Wenhua West Road, No. 107, Shandong Province, Jinan 250012, China (lpfsdu@foxmail.com).

Published Online: May 16, 2022. doi:10.1001/jamaneurol.2022.1008

Author Contributions: Drs Yu and Cao contributed equally to this work.

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
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2.
Butz  ES , Chandrachud  U , Mole  SE , Cotman  SL .  Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.   Biochim Biophys Acta Mol Basis Dis. 2020;1866(9):165571. doi:10.1016/j.bbadis.2019.165571PubMedGoogle ScholarCrossref
3.
Specchio  N , Ferretti  A , Trivisano  M ,  et al.  Neuronal ceroid lipofuscinosis: potential for targeted therapy.   Drugs. 2021;81(1):101-123. doi:10.1007/s40265-020-01440-7PubMedGoogle ScholarCrossref
4.
Nakka  P , Pattillo Smith  S , O’Donnell-Luria  AH ,  et al; 23andMe Research Team.  Characterization of prevalence and health consequences of uniparental disomy in 4 million individuals from the general population.   Am J Hum Genet. 2019;105(5):921-932. doi:10.1016/j.ajhg.2019.09.016PubMedGoogle ScholarCrossref
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