The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

Vaughan, Jenny; Dürr, Alexandra; Tassin, Johann; Bereznai, Benjámin; Gasser, Thomas; Bonifati, Vincenzo; Michele, Giuseppe De; Fabrizio, Edito; Volpe, G.; Bandmann, Oliver; Johnson, William G.; Golbe, Lawrence I.; Breteler, Monique M.B.; Meco, Giuseppe; Agid, Yves; Brice, Alexis; Marsden, C. D.; Wood, Nicholas W.

doi:10.1002/ana.410440221

Cited by 79 publications

(28 citation statements)

References 17 publications

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“…17 Based on large population-based studies, missense mutations of SNCA are infrequent. 18 In particular, the SNCA A53T mutations identified in patients with FPD originate from a single founder. To date, SNCA A30P and E46K mutations have been found in only one family each, suggesting that missense mutations are a very rare cause of parkinsonism.…”

mentioning

confidence: 99%

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease

Nishioka

Hayashi

Farrer

et al. 2005

Annals of Neurology

300

227

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mentioning

confidence: 99%

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease

Nishioka

Hayashi

Farrer

et al. 2005

Annals of Neurology

300

227

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“…Another missense mutation (A30P) in α-synuclein was identified in an independent study [62]. However, subsequent investigations involving a large number of patients with sporadic or familial PD have failed to identify any mutations in the α-synuclein gene [15,105,118,119], indicating that this gene is involved in very small population of PD patients.…”

Section: Iia α-Synucleinmentioning

confidence: 99%

Genetic Factors in Parkinsons Disease and Potential Therapeutic Targets

Feng¹

2003

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Abstract:Parkinson's disease is a neurodegenerative movement disorder caused by a combination of environmental and genetic factors. Recent human genetic studies have identified five genes that are linked to Parkinson's disease (PD): α-synuclein, parkin, UCH-L1, DJ-1 and NR4A2. Among these genes, a variety of mutations in the human parkin locus have been found in many PD cases, both familial and sporadic. Parkin appears to be the most prevalent genetic factor in PD. It encodes for a protein-ubiquitin E3 ligase, whose loss-offunction mutations cause specific degeneration of dopamine (DA) neurons in substantia nigra in human patients. The accumulation of parkin substrates is thought to be the key factor in the selective death of DA neurons. Rapid progress in the identification of these substrates and the generation of genetic animal models has produced a plethora of knowledge about the biological function of parkin and its role in PD. These studies also offer novel pharmacological targets for the development of more selective therapeutic strategies. In this review, I will summarize results from this fast expanding field and discuss their potential implication in the treatment of Parkinson's disease.

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“…2), we conclude that the mutation is causative for Parkinson's disease in this family. Numerous studies to identify further mutations in other ADPD families and in patients with sporadic Parkinson's disease [2,8,41,42] have failed to identify Parkinson's disease patients with a mutation in the α-synuclein gene. Together, these results suggest that α-synuclein participates in the pathogenesis of some rare forms of ADPD.…”

Section: Park1mentioning

confidence: 99%

Genetic influence on the development of Parkinson’s disease

Rieß¹,

Kühn²,

Krüger³

2000

J Neurol

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In the last few years, the genetic contribution to Parkinson's disease has gained major attention and resulted in the identification of four gene loci in autosomal dominant and autosomal recessive Parkinson's disease. Several mutations in two genes have been shown to be responsible for neuronal cell death in Parkinson's disease. One of the gene products involved, alpha-synuclein, is a major component of Lewy bodies, the neuropathological feature of Parkinson's disease. In contrast, mutations in the parkin gene are associated with parkinsonism without Lewy body pathology. The elucidation of polygenic changes in the dopamine pathway, mitochondrial dysfunction, and of xenobiotic metabolism is technically now possible by means of association and genotype studies. The increasing knowledge of the pathogenesis of Parkinson's disease at a molecular level will have important implications for the development of individual therapeutic strategies to prevent disease progression.

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The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

Cited by 79 publications

References 17 publications

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease

Genetic Factors in Parkinsons Disease and Potential Therapeutic Targets

Genetic influence on the development of Parkinson’s disease

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