Familial Parkinsonism Of

PARKINSON'S DISEASE PHENOTYPE

In the Parkinson's disease phenotype of heredofamilial parkinsonism, some families have the exact genetic defect or an identified susceptibility locus on the chromosome (Table 14.1). Others have an as yet unknown genetic status.

The pathogenesis of Parkinson's disease is largely unknown, but it is probably due to a combination of genetic and environmental factors.15 Genetics seem to play a prominent role, especially in patients with an early onset.516 Genetic linkages have been identified in families with Parkinson's disease or sporadic Parkinson's disease. Familial Parkinson's disease can be inherited as autosomal dominant or autosomal recessive trait. Patients with sporadic Parkinson's disease are most likely to carry an autosomal recessive gene, although it may be possible for Parkinson's disease that is autosomal dominant to have a sporadic presentation because of reduced penetrance or clinical expression.17

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