Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot

Neurology. 2023 Nov 7;101(19):861-862. doi: 10.1212/WNL.0000000000207715. Epub 2023 Aug 21.

Authors

Lulup K Sahoo¹, Vidyasagar Kota², Pradeep K Panigrahi², Srimant Pattnaik², Ajit P Mishra², Srikanta K Sahoo¹; as the SUM Neuro-opthalmology Study Group

Affiliations

¹ From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India. lulupsahoo@gmail.com.
² From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.

No abstract available

Publication types

Case Reports

MeSH terms

Ataxia
Humans
Mucolipidoses* / genetics
Mutation, Missense
Myoclonus* / genetics
Neuraminidase / genetics
Spinocerebellar Degenerations*

Substances

NEU1 protein, human
Neuraminidase