Early Onset Parkinson’s Disease and It’s Genetic Consequences

Öz

Genetic and environmental factors play an important role in the development and progression of Parkinson’s Disease(PD). In this study, it was aimed to evaluate the genetic test results and clinical findings of early-onset Parkinson's Disease (EOPD) followed up in the movement disorders outpatient clinic of our hospital by comparing them with the literature. Patients who were followed up with the diagnosis of EOPD in the Movement Disorders Outpatient Clinic of Neurology Department, Marmara University Faculty of Medicine and whose genetic tests were performed; demographic characteristics, clinical findings and genetic test results were analyzed retrospectively. Forty-three EOPD patients (13 females, 30 males) who were genetically tested were enrolled in the study. The mean age was 52.3 (range; 31-64 years), and the mean age of disease onset was 42.8 (range; 25-49 years). Seven different mutations for PARK-2 and PINK-1 were detected in 93% of the patients for whom genetic testing was requested. Genetic mutation was not detected in 7% of the patients. While 57.5% of the patients with a positive genetic test had prodromal symptoms such as hyposmia, constipation and Rapid Eye Movement(REM) Sleep Behaviour Disorder (RBD), none of the patients with a negative genetic test had prodromal symptoms. It has been shown that some of the benign allelic mutations detected in EOPD patients may be genetic risk factors for EOPD. In our study, we wanted to draw attention to the need for multicenter studies with larger numbers of patients and healthy controls to determine the relationship between benign allelic mutations and EOPD.

Anahtar Kelimeler

• Parkinson's Disease
• PARK-2
• PINK-1

Erken Başlangıçlı Parkinson Hastalığı ve Genetik Sonuçları

Öz

Genetik ve çevresel faktörler PH gelişmesinde ve ilerlemesinde önemli rol oynar. Bu çalışmada hastanemiz hareket bozuklukları polikliniğinde takipli EBPH’nın genetik test sonuçları ve klinik bulgularının literatür ile karşılaştırılarak değerlendirilmesi amaçlanmıştır. Üniversite hastanesi hareket bozuklukları polikliniğinde erken başlangıçlı Parkinson Hastalığı tanısı ile takip edilen ve genetik tetkikleri yapılmış olan hastaların; demografik özellikleri, klinik bulguları ve genetik test sonuçları retrospektif olarak incelendi. Hareket bozuklukları polikliniğinden takipli, genetik testi yapılmış 43 EBPH’sı çalışmaya alındı. Hastaların 13’ü kadın, 30’u erkekti. Yaş ortalaması 52, hastalık başlangıç yaşı ortalaması 42,8 (25-49) bulundu. Genetik test istenen hastaların %93 ‘ünde PARK-2 ve PINK-1 için 7 ayrı mutasyon saptandı. Hastaların % 7’sinde genetik mutasyon tespit edilmedi. Tremor başlangıç %65, akinetik-rijit başlangıç %35 hastada görüldü. Hiposmi, kabızlık, RUDB gibi prodromal semptomlar genetik testi pozitif saptanan hastaların %57,5’inde görülürken, genetik testi negatif gelen hastaların hiçbirinde mevcut değildi. EBPH’ında tespit edilen benign alel mutasyonların bazılarının EBPH için genetik risk faktörü olabileceği gösterilmiştir. Çalışmamızda benign alel mutasyonların hastalık ile ilişkisini tespit etmek için daha çok sayıda hastanın ve sağlıklı kontrolün katıldığı çok merkezli çalışmalara ihtiyaç olduğuna dikkat çekmek istedik.

Anahtar Kelimeler

• Parkinson Hastalığı
• PARK-2
• PINK1

Kaynakça

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