Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case
TURKISH JOURNAL OF NEUROLOGY, cilt.22, sa.2, ss.84-87, 2016 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 22 Sayı: 2
- Basım Tarihi: 2016
- Doi Numarası: 10.4274/tnd.32650
- Dergi Adı: TURKISH JOURNAL OF NEUROLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.84-87
- İstanbul Üniversitesi Adresli: Evet
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.