BRAIN A JOURNAL OF NEUROLOGY PINK1-linked parkinsonism is associated with Lewy body pathology
نویسندگان
چکیده
1 Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain 2 Department of Neurology, Clı́nica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain 3 Parkinson’s and Movement Disorders Unit, Department of Neurology, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain 4 Institut de Neuropatologia, Servei d’Anatomia Patològica, Hospital Universitari de Bellvitge, Hospitalet del Llobregat, Spain 5 CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain 6 Functional Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain 7 Department of Neurology, Hospital General de Fuerteventura, Fuerteventura, Spain 8 Department of Nuclear Medicine, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
منابع مشابه
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease.
PURPOSE OF REVIEW Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum whereas recessive genes cause a milder parkinsonism with variable inclusion body pathology. The subject of this review is to highlight these discoveries and to discuss their re...
متن کاملPINK1-linked parkinsonism is associated with Lewy body pathology.
Phosphatase and tensin homolog-induced putative kinase 1 gene mutations have been associated with autosomal recessive early-onset Parkinson's disease. To date, no neuropathological reports have been published from patients with Parkinson's disease with both phosphatase and tensin homolog-induced putative kinase 1 gene copies mutated. We analysed the coding region of phosphatase and tensin homol...
متن کاملNigral pathology and parkinsonian signs in elders without Parkinson disease.
OBJECTIVE Motor symptoms such as mild parkinsonian signs are common in older persons, but little is known about their underlying neuropathology. We tested the hypothesis that nigral pathology is related to parkinsonism in older persons without Parkinson disease (PD). METHODS More than 2,500 persons participating in the Religious Orders Study or the Memory and Aging Project agreed to annual as...
متن کاملPINK1 protein in normal human brain and Parkinson's disease.
Parkinson's disease is a common incurable neurodegenerative disease whose molecular aetiology remains unclear. The identification of Mendelian genes causing rare familial forms of Parkinson's disease has revealed novel proteins and pathways that are likely to be relevant in the pathogenesis of sporadic Parkinson's disease. Recently, mutations in a novel gene, PINK1, encoding a 581 amino acid pr...
متن کاملDeciphering the role of heterozygous mutations in genes associated with parkinsonism.
The association of six genes with monogenic forms of parkinsonism has unambiguously established that the disease has a genetic component. Of these six genes, LRRK2 (leucine-rich repeat kinase 2, or PARK8), parkin (PARK2), and PINK1 (PTEN-induced putative kinase 1, or PARK6) are the most clinically relevant because of their mutation frequency. Insights from initial familial studies suggest that ...
متن کامل