Autosomal Recessive Parkinson's Disease with Early-Onset in a Turkish Family

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Ayas Z. O., Kotan D., GÜNDOĞDU A. A.

GAZI MEDICAL JOURNAL, cilt.30, sa.2, ss.193-194, 2019 (ESCI, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.12996/gmj.2019.46
  • Dergi Adı: GAZI MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.193-194
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic cases are seen in 85 %, familial forms in 10-15 %, and single gene inheritance in 5 %. In this article, we present a patient with early-onset Parkinson disease who had family history but negative genetic analyses. Genetic mutations of autosomal recessive early-onset parkinsonism are more frequently evaluated in clinical practice and are directed to be analyzed more frequently in a selected group of patients.