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Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case [Turk J Neurol]
Turk J Neurol. 2016; 22(2): 84-87 | DOI: 10.4274/tnd.32650  

Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case

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

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.

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


Ebru Nur Vanlı Yavuz, Güneş Altıokka, Zeliha Matur, Mikko Muona, Nerses Bebek, Candan Gürses, Anna Elina Lehesjoki, Ayşen Gökyiğit, Betül Baykan. Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case. Turk J Neurol. 2016; 22(2): 84-87

Corresponding Author: Ebru Nur Vanlı Yavuz, Türkiye


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