PINK1 type of early onset Parkinson’s disease (EOPD)‎ in Sudanese patients, 2018

الملخص EN

Background: Parkinson’s Disease (PD) is a neurodegenerative disorder affecting the motor system.

It is a chronic progressive disorder that leads to long standing disability.

Objective: To study the presentations and PINK1 gene in young Sudanese patients with PD.

Methods: A prospective study was conducted among 31 PD patients at the National center for Neurological Science (NCNS) at Khartoum state.

A structured questionnaire was used for data collection.

This consisted of personal data, clinical presentations, and investigations.

RT-PCR technique was done using G-spinTM kit.

PINK1 gene was detected in most of the samples and was strongly positive.

Data was analyzed using SPSS version 21.

Results: The majority of them, 19 (61%), were located in age group 41–50 years; the mean age of onset was 33.4 ± 12 yr; Our of the total number of subjects, 19 (61%) were male and 12 (39%) were female with a ratio 1.6:1 (M:F); 20 (64.5%) were married and 8 (40%) were endogamous married; 5 (62.5%) were second degree and 3 (37.5%) were third degree, 17 (85%) had children and 2 (10%) had children with PD; 22 (71%) had duration more than 12 months and 12 (39%) were more than 40 years old; 29 (93.5%) had tremor, 27 (87.1%) had rigidity, 23 (74.2%) had bradykinesia, and 14 (45%) had positive family history of PD.

PINK1 gene expression was detected in 28 (90.3%) patients.

No significant associations were found between PINK1 expression and age, gender, age at onset, and family history (P > 0.05).

Conclusion: This study concludes that early onset PD was common among males than females.

The most affected age group was found to be 41–50 years and the mean age of onset was 33.4 yr.

Also, the patterns of the clinical features were generally similar to literature.

PINK1 expression was predominant with no significant associations between PINK1 expression with age, gender, age at onset, and family history.