Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case


Creative Commons License

Yavuz E. N. V. , Altiokka G., Matur Z. , Muona M., BEBEK N., Gurses C., ...More

TURKISH JOURNAL OF NEUROLOGY, vol.22, no.2, pp.84-87, 2016 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.4274/tnd.32650
  • Title of Journal : TURKISH JOURNAL OF NEUROLOGY
  • Page Numbers: pp.84-87
  • Keywords: Progressive myoclonic epilepsy, sialidosis, NEU1 gene mutation, cherry-red spot, SIALIDOSIS TYPE-I, SIBLINGS

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.