Create issue ticket

20 Possible Causes for Caused by Mutation in the Alpha Synuclein Gene

  • Hereditary Late-Onset Parkinson Disease

    Certain rare mutations, including multiple copies, of the gene encoding alpha synuclein were found to cause familial (hereditary) Parkinson’s disease.[parkure.co.uk] At least 30 mutations in this gene have been found to cause Parkinson’s.[parkinson.org] Mutations in the alpha-synuclein (PARK1), Parkin (PARK2) and DJ-1 (PARK7) gene cause fairly rare familial forms of PD characterized by an early age of onset.[jnrbm.biomedcentral.com]

  • Parkinson's Disease Type 3

    It is important to know that in some congenital forms of Parkinson's disease, affected persons carry genetic defects in the alpha-synuclein gene.[sciencedaily.com] […] acid 30) confirmed that mutations in the alpha-synuclein gene can cause Parkinson disease. [9] A few additional familial mutations in the alpha-synuclein gene have been identified[emedicine.medscape.com] These mutations, it is suspected, eventually cause the protein to fold incorrectly, thus forming dangerous fibrils.[sciencedaily.com]

  • Parkinson's Disease

    Point mutations, duplications and triplications in the alpha-synuclein (SNCA) gene cause a rare dominant form of PD in familial and sporadic cases.[ncbi.nlm.nih.gov] […] acid 30) confirmed that mutations in the alpha-synuclein gene can cause Parkinson disease. [9] A few additional familial mutations in the alpha-synuclein gene have been identified[emedicine.com] More than 13 loci and 9 genes have been identified, but their implication in PD is not always certain.[ncbi.nlm.nih.gov]

  • Young-Onset Parkinson Disease

    At least 30 mutations in this gene have been found to cause Parkinson’s.[parkinson.org] synuclein.[parkinson.org] People who have both early-onset PD and a strong family history of the disease are more likely to carry genes linked to PD, such as SNCA Provides instructions for making alpha[parkinson.org]

  • Pallidopyramidal Syndrome

    […] gene, which causes too much alpha synuclein protein to be present inside cells.[medium.com] […] of Parkinson’s — such as those which target LRRK2 or alpha synuclein.[medium.com] And while most people will not carry a mutation in any of the genes mentioned in this post, these therapies still hold hope as they combat problems seen in many with idiopathic[medium.com]

  • Hereditary Early-Onset Parkinson Disease

    It has been found that mutations of these genes are some of the underlying causes. In some causes there can be multiple mutations in one gene.[parkinsons.org] In alpha-synuclein a haplotype that encompassed the gene suggested a common genetic cause of idiopathic PD in the Norwegian population and coupled a previous 5’ promoter association[brage.bibsys.no] SNCA The discovery of mutations in the SNCA gene was the first evidence of a genetic cause for PD.[atrainceu.com]

  • Shy Drager Syndrome

    No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy. Neurosci Lett 1999 ; 270 : 110 –12.[mp.bmj.com] Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration. Neurology 1997 ; 49 : 1598 –604.[mp.bmj.com]

  • Juvenile Paralysis Agitans of Hunt

    At least 30 mutations in this gene have been found to cause Parkinson’s.[parkinson.org] synuclein.[parkinson.org] People who have both early-onset PD and a strong family history of the disease are more likely to carry genes linked to PD, such as SNCA Provides instructions for making alpha[parkinson.org]

  • Huntington's Disease

    Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science. 1997. 276 :2045-2047. Kitada, T, et al.[dx.doi.org] Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science. 1997; 276 :2045–2047. [ PubMed ] [ Google Scholar ] 33. Kitada T, et al.[ncbi.nlm.nih.gov] Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease. Lancet. 2004. 364 :1167-1169. Albrecht, M. LRRK2 mutations and Parkinsonism.[dx.doi.org]

  • Spinocerebellar Ataxia Type 1

    The Parkinson's disease model mice overexpressing the mutant A53T SNCA gene lacking endogenous alpha-synuclein, exhibit worsened synucleinopathy when compared to littermates[doi.org] Loss of normal endogenous function of mutant proteins may also play a role in other dominant neurodegenerative diseases caused by gain-of-function mutations.[doi.org]

Further symptoms