Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. The syndrome associates a Parkinson's syndrome, athymormia and hypoventilation. Massive neuronal depopulation in the locus niger and rare Lewy bodies are seen. PARKINSON'S SYNDROME WITH PERIPHERAL NEUROPATHY: In addition to the extrapyramidal signs, there is ptosis, neuropathy and sometimes dementia and major neurone loss in the locus niger. No Lewy bodies have been identified. PARKINSON'S SYNDROME WITH PALLIDOPONTONIGRAL DEGENERATION: Onset occurs between 32 and 58 years, leading to death within 8 years. Extrapyramidal signs, falls, supranuclear palsy and dementia are observed. Neurone loss is severe in the pars compacta, locu sniger, palladium, pons, and mesencephalic tegmentum. There are no Lewy bodies. EARLY-ONSET PARKINSON'S SYNDROME: Beginning between 2 and 39 years, there are no associated neurological signs. Severe neurone loss in the pars compacta and the pars reticulata of the niger locus without Lewy bodies. PARKINSON'S SYNDROME-DEMENTIA WITH "BALLOON NEURONES": This syndrome begins at 24-59 years and leads to death in 8 to 11 years. There are extrapyramidal signs, a pyramidal syndrome, dementia, generalized seizures and dysautonomia. Major neurone loss occurs with balloon neurones in the anterior temporal cortex, the amygdala, the parahippocampal gyrus, the hypothalamus, the dorsal nucleus of the X and rare Lewy bodies. PARKINSON'S SYNDROME FRONTAL DEMENTIA AND AMYOTROPHY: Beginning between 27 and 56 years, the syndrome leads to death in 13 years and associates frontal dementia with motor neurone defects with the extrapyramidal signs. There is neurone loss in the locus niger and amygdala as well as in the anterior horn of the cord. There are no Lewy bodies. SPECIFIC CLINICOPATHOLOGICAL ENTITIES: is the most likely hypothesis. There is no anatomoclinical evidence suggesting these syndromes should be considered to be Parkinson's disease.
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PMID:[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?]. 912 34

Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified in families with autosomal dominant late-onset Parkinson disease (PD). Lrrk2 is a phylogenetically conserved, ubiquitous protein, which is constitutively expressed in various cells including neurons and glial cells of human brain. We recently reported that Lrrk2 is identified in Lewy bodies in PD as well as in neuronal and glial inclusions in several other neurodegenerative disorders. Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). Lrrk2 is colocalized with tau in oligodendroglial coiled bodies and intracytoplasmic neuronal inclusions. HLA-DR positive reactive microglia and ICAM-1 positive reactive astrocytes accumulated in affected areas demonstrating that inflammatory processes are also involved in the disease pathogenesis. Western blot analysis of soluble extracts of N279K/FTDP-17/PPND brain tissue suggests that C-terminal fragment(s) of apparent 64-75 kDa molecular weight may be the major Lrrk2 species in pathological deposits. The possibility that Lrrk2 is linked with various neurodegenerative disorders through the ubiquitin proteosome pathway is discussed. The results indicate that Lrrk2 is linked to frontotemporal atrophy of PPND type caused by N279K tau mutation. They also show that chronic inflammation is involved in the pathogenesis of N279K/FTDP-17/PPND.
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PMID:Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation. 1763 29