Early onset Parkinson Disease 6 is an autosomal recessive disorder caused by homozygous or compound heterozygous in the PINK1 gene of chromosome 1 (1p36). This disorder is characterised by early onset of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Disease is slowly progressive and individuals have a favourable response to levodopa.
The diagnosis of PINK1-related early-onset Parkinson Disease 6 is suspected in individuals with early-onset parkinsonism (<40 years of age), with a family history suggestive of autosomal recessive inheritance. Diagnosis is established by identification of biallelic PINK1 variants by molecular genetic testing.
Genetics - Molecular Pathology
MOLP
Genetic
Molecular
Park
Parkinson
PINK1
4 weeks