Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
Journal of Movement Disorders
;
: 65-69, 2021.
Artículo
en Inglés
| WPRIM
| ID: wpr-874850
ABSTRACT
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
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WPRIM (Pacífico Occidental)
Idioma:
Inglés
Revista:
Journal of Movement Disorders
Año:
2021
Tipo del documento:
Artículo
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