Background: In 2009 a new complex homozygous large rearrangement of the pink1 gene in a Sudanese family with early onset Parkinson's disease was reported. The members of this family were followed-up for the last 5 years; we here report their clinical progression, management modalities and outcomes
Case report: This family was first seen in 2005 at OPD for adult neurology at Soba University Hospital (one of the Khartoum University hospitals). Four members of the family presented with progressive difficulty in initiating movement, resting tremors and shuffling gait. A provisional diagnosis of early onset Parkinson's disease (EOPD) was made and genetic workup revealed a mutation in the PINK1 gene. Symptoms started as early as 9 years in one patient and at 1–-14 years in others. All family members developed motor symptoms including bradykinesia, resting tremors, postural instability and rigidity. Two patients have severe non motor symptoms including depression, cognitive impairment, and sleep disorders. Two patients had severe side effects to levodopa and in spite of being given small frequent doses they are still suffering from severe rigidity and bradykinesia and getting severe dyskinesia at the onset of medication.
Conclusion and recommendation: For the last 5 years the patients have shown progression in their symptoms and have started developing impaired cognitive functions. Is there any management option that gives hope for these patients to improve their quality life?
© 2015 Published by Elsevier Inc.