ArticleMolecular neurobiology2018
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
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Article in Molecular neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53citing papers in PubMed
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53 citing papers in PubMed, 87 citations in OpenAlex.
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Authors and funding
48 authors at 15 institutions in 2 countries.
Shaghayegh TaghaviDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Rita ChaouniDepartment of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Abbas TafakhoriDepartment of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Luis J AzconaDepartment of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Saghar Ghasemi FirouzabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mir Davood OmraniDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Javad JamshidiNoncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
Babak EmamalizadehDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Gholam Ali ShahidiMovement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran.
Mona AhmadiDepartment of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Seyed Amir Hassan HabibiMovement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran.
Azadeh AhmadifardDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Atena FazeliDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Marzieh MotallebiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Peyman PetramfarDepartment of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran.
Saeed AskarpourDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Shiva AskarpourDepartment of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran.
Hossein Ali ShahmohammadibeniNeurology Department, Jondi-Shapoor University of Medical Sciences, Ahwaz, Iran.
Neda ShahmohammadibeniCellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
Hajar EftekhariCellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
Amir Ehtesham Shafiei ZarnehDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Saeed MohammadihosseinabadDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mehdi KhorramiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Safa NajmiDepartment of Neurology, Tabriz University of Medical Science, Tabriz, Iran.
Ahmad ChitsazIsfahan University of Medical Sciences, Isfahan, Iran.
Parasto ShokraeianTehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran.
Hossein EhsanbakhshDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jalal RezaeidianDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Reza Ebrahimi RadVali Abad Branch, Islamic Azad University, Tonekabon, Iran.
Faranak MadadiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Monavvar AndarvaDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Elham AlehabibDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Minoo AtakhorramiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Seyed Erfan MortazaviDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Zahra AzimzadehDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mahdis BayatDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Amir Mohammad BesharatiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammad Ali Harati-GhaviDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Samareh OmidvariDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Zahra Dehghani-TaftiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Faraz MohammadiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Banafsheh Mohammad Hossein PourDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hamid Noorollahi MoghaddamToos General Hospital, Tehran, Iran.
Ehsan Esmaili ShandizNeurology Department, Ganjavian Hospital, Dezful University of Medical Sciences, Dezful, Iran.
Arman HabibiMovement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran.
Zahra Taherian-EsfahaniDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hossein DarvishDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. darvish_mg@sbmu.ac.ir.
Coro Paisán-RuizDepartment of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. coro.paisan-ruiz@mssm.edu.
Shahid Beheshti University of Medical Sciences · IRIcahn School of Medicine at Mount Sinai · USIran University of Medical Sciences · IRBabol University of Medical Sciences · IRShiraz University of Medical Sciences · IRTehran University of Medical Sciences · IRDay General Hospital · IRDezful University of Medical Sciences · IRFasa University of Medical Sciences · IRIsfahan University of Medical Sciences · IRIslamic Azad University Medical Branch of Tehran · IRIslamic Azad University Tonekabon · IRTabriz University of Medical Sciences · IRUniversity of Social Welfare and Rehabilitation Sciences · IRUniversity of Tabriz · IR
Funding
Elucidating and understanding the genetic basis of movement disordersR01NS079388 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PAISAN-RUIZ, CORO · 2013 to 2017
$1.9MAmerican Parkinson Disease Association 16-0632-APDANational Institute of Neurological Disorders and Stroke R01NS079388NINDS NIH HHS R01 NS079388
Abstract
In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.
Indexed as
FamilyAdultAmino Acid SequenceBase SequenceExonsFemaleHumansIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMiddle AgedMutationParkinsonian DisordersPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesProtein KinasesIntracellular Signaling Peptides and ProteinsMembrane Proteinsparkin proteinPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesProtein KinasesPTEN-Induced Putative KinaseUbiquitin-Protein LigasesVAC14 protein, humanEarly-onsetGenotype-phenotype correlationsParkinson’s diseasePathogenic mutations
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