Literature DB >> 27250986

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Nicola Tambasco1, Pasquale Nigro2, Michele Romoli2, Paolo Prontera3, Simone Simoni2, Paolo Calabresi2,4.   

Abstract

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.

Entities:  

Keywords:  Genetics; Parkinson’s disease; SNCA; α-synuclein

Mesh：

Substances：

Year:  2016        PMID： 27250986     DOI： 10.1007/s00702-016-1578-6

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  54 in total

1.  The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease.

Authors:  C-S Ki; E F Stavrou; N Davanos; W Y Lee; E J Chung; J-Y Kim; A Athanassiadou
Journal:  Clin Genet       Date:  2007-05       Impact factor: 4.438

2.  Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication.

Authors:  T Uchiyama; T Ikeuchi; Y Ouchi; M Sakamoto; K Kasuga; A Shiga; M Suzuki; M Ito; T Atsumi; T Shimizu; T Ohashi
Journal:  Neurology       Date:  2008-10-14       Impact factor: 9.910

3.  A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.

Authors:  Andreas Puschmann; Owen A Ross; Carles Vilariño-Güell; Sarah J Lincoln; Jennifer M Kachergus; Stephanie A Cobb; Suzanne G Lindquist; Jørgen E Nielsen; Zbigniew K Wszolek; Matthew Farrer; Håkan Widner; Danielle van Westen; Douglas Hägerström; Katerina Markopoulou; Bruce A Chase; Karin Nilsson; Jan Reimer; Christer Nilsson
Journal:  Parkinsonism Relat Disord       Date:  2009-07-25       Impact factor: 4.891

4.  Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy.

Authors:  Juan J Zarranz; Anabel Fernández-Bedoya; Imanol Lambarri; Juan C Gómez-Esteban; Elena Lezcano; Javier Zamacona; Pedro Madoz
Journal:  Mov Disord       Date:  2005-10       Impact factor: 10.338

5.  Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Authors:  Márcia M G Pimentel; Fabíola C Rodrigues; Marco Antônio A Leite; Mário Campos Júnior; Ana Lucia Rosso; Denise H Nicaretta; João S Pereira; Delson José Silva; Marcus V Della Coletta; Luiz Felipe R Vasconcellos; Gabriella M Abreu; Jussara M Dos Santos; Cíntia B Santos-Rebouças
Journal:  Parkinsonism Relat Disord       Date:  2015-03-14       Impact factor: 4.891

6.  Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

Authors:  Simone Olgiati; Astrid Thomas; Marialuisa Quadri; Guido J Breedveld; Josja Graafland; Hubertus Eussen; Hannie Douben; Annelies de Klein; Marco Onofrj; Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2015-06-09       Impact factor: 4.891

7.  The validity and reliability of the Italian Olfactory Identification Test (IOIT) in healthy subjects and in Parkinson's disease patients.

Authors:  Carlo Maremmani; Giuseppe Rossi; Nicola Tambasco; Bruno Fattori; Aldo Pieroni; Silvia Ramat; Alessandro Napolitano; Paola Vanni; Palma Serra; Patrizia Piersanti; Michela Zanetti; Maila Coltelli; Massimo Orsini; Roberto Marconi; Carlo Purcaro; Aroldo Rossi; Paolo Calabresi; Giuseppe Meco
Journal:  Parkinsonism Relat Disord       Date:  2012-04-15       Impact factor: 4.891

8.  Parkinson Disease Genetics: A "Continuum" from Mendelian to Multifactorial Inheritance.

Authors:  S Petrucci; F Consoli; E M Valente
Journal:  Curr Mol Med       Date:  2014       Impact factor: 2.222

9.  Mutated alpha-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance?

Authors:  A Papadimitriou; V Veletza; G M Hadjigeorgiou; A Patrikiou; M Hirano; I Anastasopoulos
Journal:  Neurology       Date:  1999-02       Impact factor: 9.910

10.  A novel α-synuclein missense mutation in Parkinson disease.

Authors:  Christos Proukakis; Christopher G Dudzik; Timothy Brier; Donna S MacKay; J Mark Cooper; Glenn L Millhauser; Henry Houlden; Anthony H Schapira
Journal:  Neurology       Date:  2013-02-20       Impact factor: 9.910
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  8 in total

Review 1.  Cellular and Molecular Aspects of Parkinson Treatment: Future Therapeutic Perspectives.

Authors:  Khosro Jamebozorgi; Eskandar Taghizadeh; Daryoush Rostami; Hosein Pormasoumi; George E Barreto; Seyed Mohammad Gheibi Hayat; Amirhossein Sahebkar
Journal:  Mol Neurobiol       Date:  2018-11-05       Impact factor: 5.590

Review 2.  Genetics of Synucleinopathies.

Authors:  Robert L Nussbaum
Journal:  Cold Spring Harb Perspect Med       Date:  2018-06-01       Impact factor: 6.915

Review 3.  The role of monogenic genes in idiopathic Parkinson's disease.

Authors:  Xylena Reed; Sara Bandrés-Ciga; Cornelis Blauwendraat; Mark R Cookson
Journal:  Neurobiol Dis       Date:  2018-11-15       Impact factor: 5.996

Review 4.  α-Synuclein and Parkinsonism: Updates and Future Perspectives.

Authors:  Kaie Rosborough; Neha Patel; Lorraine V Kalia
Journal:  Curr Neurol Neurosci Rep       Date:  2017-04       Impact factor: 5.081

5.  Blocking meningeal lymphatic drainage aggravates Parkinson's disease-like pathology in mice overexpressing mutated α-synuclein.

Authors:  Wenyan Zou; Tinglin Pu; Weixi Feng; Ming Lu; Ying Zheng; Renhong Du; Ming Xiao; Gang Hu
Journal:  Transl Neurodegener       Date:  2019-03-01       Impact factor: 8.014

Review 6.  Current Progress of Mitochondrial Quality Control Pathways Underlying the Pathogenesis of Parkinson's Disease.

Authors:  Xue Jiang; Tao Jin; Haining Zhang; Jing Miao; Xiuzhen Zhao; Yana Su; Ying Zhang
Journal:  Oxid Med Cell Longev       Date:  2019-08-14       Impact factor: 6.543

Review 7.  Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Authors:  Kenya Nishioka; Yuzuru Imai; Hiroyo Yoshino; Yuanzhe Li; Manabu Funayama; Nobutaka Hattori
Journal:  Front Neurol       Date:  2022-06-02       Impact factor: 4.086

Review 8.  Profiling Non-motor Symptoms in Monogenic Parkinson's Disease.

Authors:  Xinyao Liu; Weidong Le
Journal:  Front Aging Neurosci       Date:  2020-10-30       Impact factor: 5.750
  8 in total

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