Familial Parkinsons Disease

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At the time this manuscript was being prepared, at least 11 different genetic loci had been linked to familial PD, including mutations in four specific genes (47,48). The pattern of inheritance includes both autosomal dominant and recessive and the clinical phenotypes vary from typical PD to families with juvenile or early onset and others with atypical clinical features. For most of these, information about the pathological findings is not yet available. Families with autosomal dominant PD and mutation of the gene for a-synuclein have changes similar to sporadic PD, with nigral degeneration and LBs (23). Cases of autosomal recessive, juvenile-onset PD and parkin mutations have neuronal loss in the substantia nigra and locus ceruleus, but only one report has described finding LBs (49). A single family has been identified with a mutation in the gene for ubiquitin C-terminal hydrolase L1 (UCH-L1) (50). No pathological information is available from this family but mice with intronic deletion of this gene develop axonal degeneration (51).

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