Movement Disorders · 2004 · 35 citations · 19 references
MedicineNeurologyNeuroscienceNeurogeneticsNeuromuscular DisordersNeuropathologyNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersPeripheral Nerve DisordersPeripheral NeuropathiesAutosomal Dominant Hereditary NeuropathyAutosomal Recessive Hereditary NeuropathyAutosomal Recessive InheritanceHereditary Motor Neuron DiseaseParkin MutationsParkinson's Disease GeneticsPeripheral Nervous System DisordersPeripheral Neuropathy Pathophysiology
Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which presented as neuropathy with liability to pressure palsies (HNPP) in the index case. RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system.
19
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada, Shuichi Asakawa, Nobutaka Hattori et al. · Nature · 1998 · 5.2K citations