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Lewy小体帕金森病在一个有77例pakin基因突变携带者大家系中的发病情况

世界核心医学期刊文摘(神经病学分册) 2006年第1期 7-8页

作者： pramstaller p.p. Schlossmacher M.G. Jacques T.S. 郭俊 Department of Neurology Central Hospital Bolzano/Bozen 5 Lorenz-Boehl- er Street 39100 Bolzano/Bozen Italy Dr.

We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated parkin mutations in 77 subjects. Among the 25 patients, 5 carried compound heterozygous mutations and met criteria for definite parkinson's disease (pD) according to UK pD Society Brain Bank guidelines; 8 subjects carried only a heterozygous parkin mutation. The mutational status of five deceased patients was unknown, and seven pD patients had no parkin mutation. Survival analyses showed a significant difference in the age-at-onset distribution between patients with compound heterozygous mutations and the groups of heterozygous carriers and subjects without detectable parkin mutations. Autopsy of a 73-year-old patient, who carried two mutant parkin alleles (delExon7+del1072T), showed pD-type cell loss, reactive gliosis, and α-synuclein-positive Lewy bodies in the substantia nigra and locus ceruleus. Surviving neurons were reactive with antibodies to the N terminus of parkin but not the In-Between-RING (“IBR”) domain, which had been deleted by both mutations. This large parkin pedigree represents a unique opportunity to prospectively study the role of heterozygous parkin mutations as a pD risk factor, to identify additional contributors to the expression of late-onset pD in heterozygous carriers, and to reexamine the role of parkin in inclusion formation.

关键词：帕金森病基因突变点突变 pakin Lewy 携带者小体大家

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SLp-2: a potential new target for improving mitochondrial function in parkinson's disease

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Neural Regeneration Research 2017年第9期12卷 1435-1436页

作者： Alessandra Zanon Andrew A.Hicks peter p.pramstaller Irene pichler Institute for Biomedicine Eurac Research Affiliated Institute of the University of Lübeck

parkinson＇s disease （pD） is a progressive neurodegenerative disease, which is generally considered a multifactorial disorder that arises owing to a combination of genes and environmental factors. While most cases are idiopathic, in about 10% of the patients a genetic cause can be detected, ascribable to mutations in more than a dozen genes. pD is characterized clinically by tremor, rigidity, reduced mo- tor activity （bradykinesia）, and postural instability and pathological- ly by loss of dopaminergic （DA） neurons in the substantia nigra pars compacta, loss of DA innervation in the striatum, and the presence of a-synuclein positive aggregates in the form of Lewy bodies. The symptomatic treatment of pD with levodopa, which aims at replac- ing dopamine, remains the gold standard, and no neuroprotective or disease-modifying therapy is available. During treatment, the disease continues to progress, and long-term use of levodopa has import- ant limitations including motor complications termed dyskinesias. Therefore, a pharmacological therapy able to prevent or halt the neu- rodegenerative process is urgently required.

关键词： SLp-2 a potential new target for improving mitochondrial function in parkinson’s disease

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