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A 27-year-old woman presented with imbalance, tremor in both upper and lower limbs, and seizure for 6 years. The family history was negative. On examination, she had a bilateral macular cherry-red spot (Figure), multifocal action myoclonus, and cerebellar signs in the form of an impaired finger-nose test and ataxic gait (Video 1). She had normal cognition. Brain MRI was normal. Whole-exome sequencing showed a novel variant Chr 6:c.1021+4A>T in the NEU1 gene. Her parents were heterozygous for the variant. The genetic testing was suggestive of sialidosis.1 Sialidosis is caused by mutation in the gene encoding neuraminidase (NEU1) on chromosome 6p21.2 This condition is classified under progressive myoclonus ataxia (PMA). PMA is characterized by progressive ataxia and myoclonus, without significant cognitive decline and with or without infrequent seizures.2 The absence of prominent cognitive dysfunction helps in differentiating PMA from progressive myoclonus epilepsy syndrome.2 Cherry-red spot in PMA will help in diagnosing sialidosis.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Submitted and externally peer reviewed. The handling editor was Editor-in-Chief José Merino, MD, MPhil, FAAN.
- Received March 31, 2023.
- Accepted in final form July 11, 2023.
- © 2023 American Academy of Neurology
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