Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case


Yavuz E. N. V. , Altiokka G., Matur Z., Muona M., Bebek N. , Gurses C. , ...Daha Fazla

TURKISH JOURNAL OF NEUROLOGY, cilt.22, sa.2, ss.84-87, 2016 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/tnd.32650
  • Dergi Adı: TURKISH JOURNAL OF NEUROLOGY
  • Sayfa Sayıları: ss.84-87

Özet

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.