English abstract
Between 3–5% of all patients with Parkinson's disease (PD) have onset before the age
of 40 years, which is likely related to genetic causes. Parkin gene mutations are the most
common mutations, which are associated with autosomal recessive early-onset PD.
A 34-year-old Emirati female presented with complaints of limb and speech tremor. She
had been having difficulties in initiating movement and speech during her job. These
problems began two years ago and had become progressively worsened. Her medical
history was significant for generalized seizures for the past three years, which was well
controlled with prescription medications. She was unaware of any family members with
Parkinson's or any genetic disorders. Her examination revealed a reduction in eyelid
blinking movement and hypomimia facial appearance. She had severe bilateral upper
and lower extremity rigidity, which was more evident on her right side. While resting,
the patient exhibited bilateral pin-rolling tremors in both of her upper extremities. Her
gait was shuffling in nature with reduced arm swing and abnormal retropulsion. All of
her laboratory investigations were normal. Genetic analysis revealed a homozygous 1
base pair insertion in exon 5 of PARK2 gene (c.601_602insA), resulting in a nonsense
mutation causing a stop codon instead of a cysteine codon (p. Cys201X). The patient
showed an excellent response to treatment. We described a case of early-onset PD in a
female, who on genetic analysis, was found to have a previously undescribed homozygous
mutation in the PARK2 gene.
