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1. Italy's health performance, 1990–2017: findings from the Global Burden of Disease Study 2017

Author

Monasta, L, Abbafati, C, Logroscino, G, Remuzzi, G, Perico, N, Bikbov, B, Tamburlini, G, Beghi, E, Traini, E, Boston Redford, S, Ariani, F, Borzì, AM, Bosetti, C, Carreras, G, Caso, V, Castelpietra, G, Cirillo, Massimo, Conti, S, Cortesi, PA, Damiani, G, D’Angiolella, LS, Fanzo, J, Farioli, A, Fornari, C, Gallus, S, Giussani, G, Gorini, G, Grosso, G, Guido, D, La Vecchia, C, Lauriola, P, Leonardi, M, Levi, M, Madotto, F, Mondello, S, Naldi, L, Olgiati, S, Palladino, Raffaele, Piccinelli, C, Piccininni, M, Pupillo, P, Raggi, A, Rubino, S, Santalucia, P, Vacante, M, Vidale, S, Violante, FS, Naghavi, M, and Ronfani, Monasta, L, Abbafati, C, Logroscino, G, Remuzzi, G, Perico, N, Bikbov, B, Tamburlini, G, Beghi, E, Traini, E, Boston Redford, S, Ariani, F, Borzì, Am, Bosetti, C, Carreras, G, Caso, V, Castelpietra, G, Cirillo, Massimo, Conti, S, Cortesi, Pa, Damiani, G, D’Angiolella, L, Fanzo, J, Farioli, A, Fornari, C, Gallus, S, Giussani, G, Gorini, G, Grosso, G, Guido, D, La, Vecchia, Lauriola, P, Leonardi, M, Levi, M, Madotto, F, Mondello, S, Naldi, L, Olgiati, S, Palladino, Raffaele, Piccinelli, C, Piccininni, M, Pupillo, P, Raggi, A, Rubino, S, Santalucia, P, Vacante, M, Vidale, S, Violante, F, Naghavi, M, And, Ronfani, GBD 2017 Italy Collaborators, Andrea Farioli, Francesco S. Violante, Monasta, L., Abbafati, C., Logroscino, G., Remuzzi, G., Perico, N., Bikbov, B., Tamburlini, G., Beghi, E., Traini, E., Redford, S. B., Ariani, F., Borzi, A. M., Bosetti, C., Carreras, G., Caso, V., Castelpietra, G., Cirillo, M., Conti, S., Cortesi, P. A., Damiani, G., D'Angiolella, L. S., Fanzo, J., Fornari, C., Gallus, S., Giussani, G., Gorini, G., Grosso, G., Guido, D., La Vecchia, C., Lauriola, P., Leonardi, M., Levi, M., Madotto, F., Mondello, S., Naldi, L., Olgiati, S., Palladino, R., Piccinelli, C., Piccininni, M., Pupillo, E., Raggi, A., Rubino, S., Santalucia, P., Vacante, M., Vidale, S., Violante, F. S., Naghavi, M., Ronfani, L., Redford, S, Borzì, A, Cirillo, M, Cortesi, P, D'Angiolella, L, La Vecchia, C, Palladino, R, Pupillo, E, and Ronfani, L

Subjects
Male, GBD 2017 Italy Collaborators, Health Status, Demographic transition, Disease, Global Health, 01 natural sciences, Global Burden of Disease, Health Statu, 0302 clinical medicine, Universal Health Insurance, Cause of Death, Health care, Medicine, 030212 general & internal medicine, Public, Environmental & Occupational Health, global burden of disease, Italy, health performance, health-care system, lcsh:Public aspects of medicine, Mortality rate, 1. No poverty, Italian health loss, 3. Good health, Female, TERRITORIES, Life Sciences & Biomedicine, Human, Population ageing, medicine.medical_specialty, Cost Control, Waiting Lists, GBD, 195 COUNTRIES, World Health Organization, Article, 03 medical and health sciences, Life Expectancy, SYSTEMATIC ANALYSIS, Delivery of Health Care, Humans, 0101 mathematics, Science & Technology, SEX-SPECIFIC MORTALITY, health care system, business.industry, DISABILITY, Public health, 010102 general mathematics, Public Health, Environmental and Occupational Health, lcsh:RA1-1270, xxx, Years of potential life lost, Life expectancy, INJURIES, GBD Italy, business, Demography
Abstract

Summary Background Through a comprehensive analysis of Italy's estimates from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017, we aimed to understand the patterns of health loss and response of the health-care system, and offer evidence-based policy indications in light of the demographic transition and government health spending in the country. Methods Estimates for Italy were extracted from GBD 2017. Data on Italy are presented for 1990 and 2017, on prevalence, causes of death, years of life lost, years lived with disability, disability-adjusted life-years (DALYs), life expectancy at birth and at age 65 years, healthy life expectancy, and Healthcare Access and Quality (HAQ) Index. We compared the estimates for Italy with those of 15 other western European countries. Findings The quality of the universal health system and healthy behaviours contribute to favourable overall health, even in comparison with other western European countries. In 2017, life expectancy and HAQ Index score in Italy were among the highest globally, with life expectancy at birth reaching 85·3 years for females and 80·8 for males in 2017, ranking Italy eighth globally for females and sixth for males, and an HAQ Index score of 94·9 in 2016 compared with 81·54 in 1990, keeping Italy ranked as ninth globally. Between 1990 and 2017 age-standardised death rates for cardiovascular diseases decreased by 53·7% (95% uncertainty interval −56·1 to −51·4), for neoplasms decreased by 28·2% (−32·3 to −24·6), and for transport injuries decreased by 62·1% (−64·6 to −59·2). However, population ageing is causing an increase in the burden of specific diseases, such as Alzheimer's disease and other dementias (DALYs increased by 77·9% [68·4 to 87·2]) and pancreatic (DALYs increased by 39·7% [28·4 to 51·7]) and uterine cancers (DALYs increased by 164·7% [129·7 to 202·5]). Behavioural risk factors, which are potentially modifiable, still have a strong effect, particularly on cardiovascular diseases and neoplasms. For instance, in 2017, 44 400 (41 200 to 47 800) cancer deaths were attributed to smoking, 12 000 (9600 to 14 800) to alcohol use, and 9500 (5400 to 14 200) to high body-mass index, while 47 000 (31 100 to 65 700) deaths due to cardiovascular diseases could be attributed to high LDL cholesterol, 28 700 (19 700 to 38 500) to diets low in whole grains, and 15 900 (8500 to 24 900) to low physical activity. Interpretation Italy provides an interesting example of the results that can be achieved by a mix of relatively healthy lifestyles and a universal health system. Two main issues require attention, population ageing and gradual decrease of public health financing, which both pose several challenges to the future of Italy's health status. Our findings should be useful to Italy's policy makers and health system experts elsewhere. Funding Bill & Melinda Gates Foundation.

Published
2019
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2. Tracking development assistance for health and for COVID-19: a review of development assistance, government, out-of-pocket, and other private spending on health for 204 countries and territories, 1990-2050

Author

Micah A, Cogswell I, Cunningham B, Ezoe S, Harle A, Maddison E, McCracken D, Nomura S, Simpson K, Stutzman H, Tsakalos G, Wallace L, Zhao Y, Zende R, Abbafati C, Abdelmasseh M, Abedi A, Abegaz K, Abhilash E, Abolhassani H, Abrigo M, Adhikari T, Afzal S, Ahinkorah B, Ahmadi S, Ahmed H, Ahmed M, Rashid T, Ajami M, Aji B, Akalu Y, Akunna C, Al Hamad H, Alam K, Alanezi F, Alanzi T, Alemayehu Y, Alhassan R, Alinia C, Aljunid S, Almustanyir S, Alvis-Guzman N, Alvis-Zakzuk N, Amini S, Amini-Rarani M, Amu H, Ancuceanu R, Andrei C, Andrei T, Angell B, Anjomshoa M, Antonio C, Antony C, Aqeel M, Arabloo J, Arab-Zozani M, Aripov T, Arrigo A, Ashraf T, Atnafu D, Ausloos M, Avila-Burgos L, Awan A, Ayano G, Ayanore M, Azari S, Azhar G, Babalola T, Bahrami M, Baig A, Banach M, Barati N, Barnighausen T, Barrow A, Basu S, Baune B, Bayati M, Benzian H, Berman A, Bhagavathula A, Bhardwaj N, Bhardwaj P, Bhaskar S, Bibi S, Bijani A, Bodolica V, Bragazzi N, Braithwaite D, Breitborde N, Breusov A, Briko N, Busse R, Cahuana-Hurtado L, Callander E, Camera L, Castaneda-Orjuela C, Catala-Lopez F, Charan J, Chatterjee S, Chattu S, Chattu V, Chen S, Cicero A, Dadras O, Dahlawi S, Dai X, Dalal K, Dandona L, Dandona R, Davitoiu D, De Neve J, de Sa A, Denova-Gutierrez E, Dhamnetiya D, Dharmaratne S, Doshmangir L, Dube J, Ehsani-Chimeh E, Zaki M, El Tantawi M, Eskandarieh S, Farzadfar F, Ferede T, Fischer F, Foigt N, Freitas A, Friedman S, Fukumoto T, Fullman N, Gaal P, Gad M, Garcia-Gordillo M, Garg T, Ghafourifard M, Ghashghaee A, Gholamian A, Gholamrezanezhad A, Ghozali G, Gilani S, Glavan I, Glushkova E, Goharinezhad S, Golechha M, Goli S, Guha A, Gupta V, Haakenstad A, Haider M, Hailu A, Hamidi S, Hanif A, Harapan H, Hartono R, Hasaballah A, Hassan S, Hassanein M, Hayat K, Hegazy M, Heidari G, Hendrie D, Heredia-Pi I, Herteliu C, Hezam K, Holla R, Hossain S, Hosseinzadeh M, Hostiuc S, Huda T, Hwang B, Iavicoli I, Idrisov B, Ilesanmi O, Irvani S, Islam S, Ismail N, Isola G, Jahani M, Jahanmehr N, Jakovljevic M, Janodia M, Javaheri T, Jayapal S, Jayawardena R, Jazayeri S, Jha R, Jonas J, Joo T, Joukar F, Jurisson M, Kaambwa B, Kalhor R, Kanchan T, Kandel H, Matin B, Karimi S, Kassahun G, Kayode G, Karyani A, Keikavoosi-Arani L, Khader Y, Khajuria H, Khalilov R, Khammarnia M, Khan J, Khubchandani J, Kianipour N, Kim G, Kim Y, Kisa A, Kisa S, Kohler S, Kosen S, Koteeswaran R, Laxminarayana S, Koyanagi A, Krishan K, Kumar G, Kusuma D, Lamnisos D, Lansingh V, Larsson A, Lasrado S, Le L, Lee S, Lee Y, Lim S, Lobo S, Lozano R, Abd El Razek H, Abd El Razek M, Mahdavi M, Majeed A, Makki A, Maleki A, Malekzadeh R, Manda A, Mansour-Ghanaei F, Mansournia M, Arnedo C, Martinez-Valle A, Masoumi S, Maude R, Mckee M, Medina-Solis C, Menezes R, Meretoja A, Meretoja T, Mesregah M, Mestrovic T, Kostova N, Miller T, Mini G, Mirica A, Mirrakhimov E, Mohajer B, Mohamed T, Mohammadi M, Mohammadian-Hafshejani A, Mohammed S, Moitra M, Mokdad A, Molokhia M, Moni M, Moradi Y, Morze J, Mousavi S, Mpundu-Kaambwa C, Muriithi M, Muthupandian S, Nagarajan A, Naimzada M, Nangia V, Naqvi A, Narayana A, Nascimento B, Naveed M, Nayak B, Nazari J, Ndejjo R, Negoi I, Kandel S, Nguyen T, Nonvignon J, Noubiap J, Nwatah V, Oancea B, Ojelabi F, Olagunju A, Olakunde B, Olgiati S, Olusanya J, Onwujekwe O, Otoiu A, Otstavnov N, Otstavnov S, Owolabi M, Padubidri J, Palladino R, Panda-Jonas S, Park E, Kan F, Pawar S, Toroudi H, Pereira D, Perianayagam A, Pesudovs K, Piccinelli C, Postma M, Prada S, Rabiee M, Rabiee N, Rahim F, Rahimi-Movaghar V, Rahman M, Rahmani A, Ram U, Ranabhat C, Ranasinghe P, Rao C, Rathi P, Rawaf D, Rawaf S, Rawal L, Rawassizadeh R, Reiner R, Renzaho A, Reshmi B, Riaz M, Ripon R, Saad A, Sahraian M, Sahu M, Salama J, Salehi S, Samy A, Sanabria J, Sanmarchi F, Santos J, Santric-Milicevic M, Sathian B, Savic M, Saxena D, Sayyah M, Schwendicke F, Senthilkumaran S, Sepanlou S, Seylani A, Shahabi S, Shaikh M, Sheikh A, Shetty A, Shetty P, Shibuya K, Shrime M, Shuja K, Singh J, Skryabin V, Skryabina A, Soltani S, Soofi M, Spurlock E, Stefan S, Szerencses V, Szocska M, Tabares-Seisdedos R, Taddele B, Tefera Y, Thavamani A, Tobe-Gai R, Topor-Madry R, Tovani-Palone M, Tran B, Car L, Ullah A, Ullah S, Umar N, Undurraga E, Valdez P, Vasankari T, Villafane J, Violante F, Vlassov V, Vo B, Vollmer S, Vos T, Vu G, Vu L, Wamai R, Werdecker A, Woldekidan M, Wubishet B, Xu G, Yaya S, Yazdi-Feyzabadi V, Yigit V, Yip P, Yirdaw B, Yonemoto N, Younis M, Yu C, Yunusa I, Moghadam T, Zandian H, Zastrozhin M, Zastrozhina A, Zhang Z, Ziapour A, Zuniga Y, Hay S, Murray C, Dieleman J, and Global Burden Dis Hlth Financing

Abstract

Background The rapid spread of COVID-19 renewed the focus on how health systems across the globe are financed, especially during public health emergencies. Development assistance is an important source of health financing in many low-income countries, yet little is known about how much of this funding was disbursed for COVID-19. We aimed to put development assistance for health for COVID-19 in the context of broader trends in global health financing, and to estimate total health spending from 1995 to 2050 and development assistance for COVID-19 in 2020. Methods We estimated domestic health spending and development assistance for health to generate total health-sector spending estimates for 204 countries and territories. We leveraged data from the WHO Global Health Expenditure Database to produce estimates of domestic health spending. To generate estimates for development assistance for health, we relied on project-level disbursement data from the major international development agencies' online databases and annual financial statements and reports for information on income sources. To adjust our estimates for 2020 to include disbursements related to COVID-19, we extracted project data on commitments and disbursements from a broader set of databases (because not all of the data sources used to estimate the historical series extend to 2020), including the UN Office of Humanitarian Assistance Financial Tracking Service and the International Aid Transparency Initiative. We reported all the historic and future spending estimates in inflation-adjusted 2020 US$, 2020 US$ per capita, purchasing-power parity-adjusted US$ per capita, and as a proportion of gross domestic product. We used various models to generate future health spending to 2050. Findings In 2019, health spending globally reached $8. 8 trillion (95% uncertainty interval [UI] 8.7-8.8) or $1132 (1119-1143) per person. Spending on health varied within and across income groups and geographical regions. Of this total, $40.4 billion (0.5%, 95% UI 0.5-0.5) was development assistance for health provided to low-income and middle-income countries, which made up 24.6% (UI 24.0-25.1) of total spending in low-income countries. We estimate that $54.8 billion in development assistance for health was disbursed in 2020. Of this, $13.7 billion was targeted toward the COVID-19 health response. $12.3 billion was newly committed and $1.4 billion was repurposed from existing health projects. $3.1 billion (22.4%) of the funds focused on country-level coordination and $2.4 billion (17.9%) was for supply chain and logistics. Only $714.4 million (7.7%) of COVID-19 development assistance for health went to Latin America, despite this region reporting 34.3% of total recorded COVID-19 deaths in low-income or middle-income countries in 2020. Spending on health is expected to rise to $1519 (1448-1591) per person in 2050, although spending across countries is expected to remain varied. Interpretation Global health spending is expected to continue to grow, but remain unequally distributed between countries. We estimate that development organisations substantially increased the amount of development assistance for health provided in 2020. Continued efforts are needed to raise sufficient resources to mitigate the pandemic for the most vulnerable, and to help curtail the pandemic for all. Copyright (C) 2021 The Author(s). Published by Elsevier Ltd.

Published
2021

3. Evolution and patterns of global health financing 1995-2014: development assistance for health, and government, prepaid private, and out-of-pocket health spending in 184 countries

Author

Dieleman, J, Campbell, M, Chapin, A, Eldrenkamp, E, Fan, VY, Haakenstad, A, Kates, J, Liu, YY, Matyasz, T, Micah, A, Reynolds, A, Sadat, N, Schneider, MT, Sorensen, R, Evans, T, Evans, D, Kurowski, C, Tandon, A, Abbas, KM, Abera, SF, Kiadaliri, AA, Ahmed, KY, Ahmed, MB, Alam, K, Alizadeh-Navaei, R, Alkerwi, A, Amini, E, Ammar, W, Amrock, SM, Antonio, CAT, Atey, TM, Avila-Burgos, L, Awasthi, A, Barac, A, Bernal, OA, Beyene, AS, Beyene, TJ, Birungi, C, Bizuayehu, HM, Breitborde, NJK, Cahuana-Hurtado, L, Castro, RE, Catala-Lopez, F, Dalal, K, Dandona, L, Dandona, R, Jager, P, Dharmaratne, SD, Dubey, M, Sofia e Sa Farinha, C, Faro, A, Feigl, AB, Fischer, F, Fitchett, JRA, Foigt, N, Giref, AZ, Gupta, R, Hamidi, S, Harb, HL, Hay, SI, Hendrie, D, Horino, M, Jurisson, M, Jakovljevic, MB, Javanbakht, M, John, D, Jonas, JB, Karimi, SM, Khang, YH, Khubchandani, J, Kim, YJ, Kinge, JM, Krohn, KJ, Kumar, GA, Abd El Razek, HM, Abd El Razek, MM, Majeed, A, Malekzadeh, R, Masiye, F, Meier, T, Meretoja, A, Miller, TR, Mirrakhimov, EM, Mohammed, S, Nangia, V, Olgiati, S, Osman, AS, Owolabi, MO, Patel, T, Caicedo, AJP, Pereira, DM, Perelman, J, Polinder, Suzanne, Rafay, A, Rahimi-Movaghar, V, Rai, RK, Ram, U, Ranabhat, CL, Roba, HS, Salama, J, Savic, M, Sepanlou, SG, Shrime, MG, Talongwa, RT, Te Ao, BJ, Tediosi, F, Tesema, AG, Thomson, AJ, Tobe-Gai, R, Topor-Madry, R, Undurraga, EA, Vasankari, T, Violante, FS, Werdecker, A, Wijeratne, T, Xu, G, Yonemoto, N, Younis, MZ, Yu, CH, Zaidi, Z, Zaki, ME, Murray, CJL, Global Burden D Hlth, F, and Public Health

Published
2017

4. Future and potential spending on health 2015-40: development assistance for health, and government, prepaid private, and out-of-pocket health spending in 184 countries

Author

Dieleman, JL, Campbell, M, Chapin, A, Eldrenkamp, E, Fan, VY, Haakenstad, A, Kates, J, Li, ZY, Matyasz, T, Micah, A, Reynolds, A, Sadat, N, Schneider, MT, Sorensen, R, Abbas, KM, Abera, SF, Kiadaliri, AA, Ahmed, MB, Alam, K, Alizadeh-Navaei, R, Alkerwi, A, Amini, E, Ammar, W, Antonio, CAT, Atey, TM, Avila-Burgos, L, Awasthi, A, Barac, A, Berheto, TM, Beyene, AS, Beyene, TJ, Birungi, C, Bizuayehu, HM, Breitborde, NJK, Cahuana-Hurtado, L, Castro, RE, Catala-Lopez, F, Dalal, K, Dandona, L, Dandona, R, Dharmaratne, SD, Dubey, M, Faro, A, Feigl, AB, Fischer, F, Fitchett, JRA, Foigt, N, Giref, AZ, Gupta, R, Hamidi, S, Harb, HL, Hay, SI, Hendrie, D, Horino, M, Jurisson, M, Jakovljevic, MB, Javanbakht, M, John, D, Jonas, JB, Karimi, SM, Khang, YH, Khubchandani, J, Kim, YJ, Kinge, JM, Krohn, KJ, Kumar, GA, Leung, R, Abd El Razek, HM, Abd El Razek, MM, Majeed, A, Malekzadeh, R, Malta, DC, Meretoja, A, Miller, TR, Mirrakhimov, EM, Mohammed, S, Molla, G, Nangia, V, Olgiati, S, Owolabi, MO, Patel, T, Caicedo, AJP, Pereira, DM, Perelman, J, Polinder, Suzanne, Rafay, A, Rahimi-Movaghar, V, Rai, RK, Ram, U, Ranabhat, CL, Roba, HS, Savic, M, Sepanlou, SG, Te Ao, BJ, Tesema, AG, Thomson, AJ, Tobe-Gai, R, Topor-Madry, R, Undurraga, EA, Vargas, V, Vasankari, T, Violante, FS, Wijeratne, T, Xu, GL, Yonemoto, N, Younis, MZ, Yu, CH, Zaidi, Z, Zaki, ME, Murray, CJL, Global Burden D Hlth, F, and Public Health

Published
2017

6. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

Author

Paolo Barone, Giuseppe De Michele, Sabina Pappatà, Vincenzo Bonifati, Anna De Rosa, Chiara Criscuolo, Marialuisa Quadri, Guido J. Breedveld, Simone Olgiati, Marina Picillo, Mario Quarantelli, Olgiati, S, DE ROSA, Anna, Quadri, M, Criscuolo, C, Breedveld, Gj, Picillo, M, Pappatà, S, Quarantelli, M, Barone, P, DE MICHELE, Giuseppe, Bonifati, V., and Clinical Genetics

Subjects
Male, Synaptojanin 1, Parkinson's disease, Genes, Recessive, Parkinsonism, Biology, SYNJ1, Cellular and Molecular Neuroscience, Parkinsonian Disorders, Genetics, medicine, Recessive, Humans, Sibling, Genetics (clinical), Family Health, Dystonia, PARK20, Medicine (all), Homozygote, Haplotype, Dopaminergic, Brain, medicine.disease, Phenotype, Phosphoric Monoester Hydrolases, Human genetics, Pedigree, Genes, Italy, Mutation, Female
Abstract

SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c.773G>A, p.Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional atypical features. Here, we report the identification of the same SYNJ1 homozygous mutation in two affected siblings of a third pedigree. Both siblings had mild developmental psychomotor delay, followed, during the third decade of life, by progressive parkinsonism, dystonia, and mild cognitive impairment. One sibling suffered one episode of generalized seizures. Neuroimaging studies revealed severe nigrostriatal dopaminergic defects, mild striatal and very mild cortical hypometabolism. Treatment with dopamine agonists and anticholinergics resulted in partial improvements. Genetic analyses revealed in both siblings the SYNJ1 homozygous c.773G>A (p.Arg258Gln) mutation. Haplotype analysis suggests that the mutation has arisen independently in this family and the Sicilian PARK20 family previously described by us, in keeping with the hypothesis of a mutational hot spot. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. This newly recognized form must be considered in the diagnostic work-up of patients with early-onset atypical parkinsonism. The presence of seizures might represent a red flag to suspect PARK20. © 2014 Springer-Verlag.

Published
2014
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7. A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism

Author

Gul Yalcin-Cakmakli, Vincenzo Bonifati, Bulent Elibol, Pietro Cortelli, Simone Olgiati, Marialuisa Quadri, Guido J. Breedveld, Yalcin-Cakmakli, G., Olgiati, S., Quadri, M., Breedveld, G.J., Cortelli, P., Bonifati, V., and Elibol, B.

Subjects
Male, Adolescent, Turkey, Turkish, Juvenile, Genes, Recessive, Biology, Parkinsonism, Compound heterozygosity, Genetic analysis, Gene, Young Adult, Parkinsonian Disorders, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, FBXO7, F-Box Protein, Genetics, F-Box Proteins, Haplotype, Homozygote, Parkinsonian Disorder, medicine.disease, language.human_language, Pedigree, Neurology, Mutation (genetic algorithm), Mutation, language, Female, Neurology (clinical), Geriatrics and Gerontology, Human
Abstract

Juvenile parkinsonism can be caused by recessive mutations in several genes. Among these, homozygous or compound heterozygous mutations in the F-box only protein 7 gene (FBXO7) cause juvenile parkinsonism with variable degrees of pyramidal disturbances (PARK15). So far, only five families (from Iran, Italy, The Netherlands, Pakistan, and Turkey) have been reported with this form. Here, we describe a new Turkish family with homozygous FBXO7 mutation (c.1492C > T, p.Arg498*). Three out of nine siblings born from consanguineous parents suffered from juvenile-onset progressive parkinsonism. Mental retardation was also documented in two of them. Of note, pyramidal signs were absent. The response to dopaminergic medications was present, but limited by dyskinesias and psychiatric side effects. Further genetic analysis of this Turkish family and the Italian PARK15 family reported previously revealed that the c.1492C > T mutation is present on two different haplotypes in the Italian family, and one of these haplotypes is shared in homozygous state in the Turkish patients. These findings contribute to the ongoing delineation of the genetic and clinical spectrum of PARK15.

Published
2014

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