Progressive Myoclonic Epilepsy and NEU1 Mutation:  A Different Phenotypic Case

Ebru Nur Vanlı Yavuz; Güneş Altıokka; Zeliha Matur; Mikko Muona; Nerses Bebek; Candan Gürses; Anna Elina Lehesjoki; Ayşen Gökyiğit; Betül Baykan

doi:10.4274/tnd.32650

Ebru Nur Vanlı Yavuz¹, Güneş Altıokka¹, Zeliha Matur¹, Mikko Muona², Nerses Bebek¹, Candan Gürses¹, Anna Elina Lehesjoki², Ayşen Gökyiğit¹, Betül Baykan¹

¹İstanbul University İstanbul Faculty of Medicine, Department of Neurology, Clinical Neurophysiology Unit, İstanbul, Turkey
²University of Helsinki Faculty of Medicine, Institute for Molecular Medicine Finland, Helsinki, Finland

Keywords: Progressive myoclonic epilepsy, sialidosis, NEU1 gene mutation, cherry-red spot

Abstract

Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a “cherry-red spot” can be observed in fundoscopic examinations. In this study, a woman aged 37 years without “cherry-red spot” on ophthalmologic examination is reported to draw attention to a new phenotypic variation. Although an ophthalmologic examination was normal, for patients with consanguineous parents with progressive ataxia, drug-resistant epilepsy and myoclonus must be investigated for progressive myoclonic epilepsy and genetic analysis for sialidosis must be performed. The diagnosis is also crucial for genetic consultancy of the family.