Autosomal Recessive Parkinson’s Disease with Early-Onset in a Turkish Family
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 i...
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| Published in | Gazi tıp dergisi Vol. 30; no. 2; pp. 193 - 194 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
Gazi Üniversitesi Yayınları
01.01.2019
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 2147-2092 2147-2092 |
| DOI | 10.12996/gmj.2019.46 |
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| Abstract | 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. |
|---|---|
| AbstractList | 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. |
| Abstract_FL | Parkinson Hastalığı insidansı yaş ile artan ilerleyici, nörodejeneratif bir
hastalıktır. Etiolojide genetik faktörlerin çevresel faktörlerle birlikte altta yatan
neden olabileceği düşünülmektedir. Sporadik nedenler % 85 oranında
görülürken, ailesel formlar % 10-15 tek gen katılımı ise % 5 oranında
görülmektedir. Bu yazıda, aile hikayesi olan ancak genetik analizleri negatif
olan erken başlangıçlı parkinson hastasını sunduk. Otozomal resesif erken
başlangıçlı parkinsonizmin genetik mutasyonları klinik pratikte daha sık
değerlendirilmekte olup ve seçili hasta grupları daha sık analiz edilmek üzere
yönlendirilmelidir. |
| Author | Aksoy Gündoğdu,Aslı Kotan,Dilcan Özözen Ayas,Zeynep |
| AuthorAffiliation | Nöroloji Kliniği Dahili Tıp Bilimleri Bölümü, Nöroloji Anabilim Dalı |
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| DocumentTitleAlternate | Bir Türk ailesinde erken başlangıçlı otozomal resesif parkinson hastalığı |
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| Editor | Ergün,Mehmet Ali |
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| Keywords | Parkinson disease early-onset Parkinson hastalığı autosomal recessive otozomal resesif erken başlangıçlı |
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increasing incidence of age. It is thought that genetic factors in etiology may
be the... |
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| Title | Autosomal Recessive Parkinson’s Disease with Early-Onset in a Turkish Family |
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