SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neuro...

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Publicado en:Neurology Vol. 63; no. 3; pp. 554 - 557
Autores principales: Johnson, J, Hague, S M, Hanson, M, Gibson, A, Wilson, K E, Evans, E W, Singleton, A A, McInerney-Leo, A, Nussbaum, R L, Hernandez, D G, Gallardo, M, McKeith, I G, Burn, D J, Ryu, M, Hellstrom, O, Ravina, B, Eerola, J, Perry, R H, Jaros, E, Tienari, P
Formato: research Journal Article
Publicado: Lippincott Williams & Wilkins 2004 Aug 10
Acceso en línea:Ver este registro en EBSCOhost
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      pub: Lippincott Williams & Wilkins
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        10.1212/01.wnl.0000133401.09043.44
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        atl: SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
      aug:
        au:
          Johnson, J
          Hague, S M
          Hanson, M
          Gibson, A
          Wilson, K E
          Evans, E W
          Singleton, A A
          McInerney-Leo, A
          Nussbaum, R L
          Hernandez, D G
          Gallardo, M
          McKeith, I G
          Burn, D J
          Ryu, M
          Hellstrom, O
          Ravina, B
          Eerola, J
          Perry, R H
          Jaros, E
          Tienari, P
        affil: Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
      sug:
        subj:
          Nerve Tissue Proteins
          Parkinson Disease
          Lewy Body Disease
          Mutation
          Lewy Body Disease Epidemiology
          White Persons
          United States
          Female
          Sequence Analysis
          England
          Adult
          Parkinson Disease Epidemiology
          Disease Susceptibility
          Middle Age
          Nerve Tissue Proteins Physiology
          Genes
          Hispanic Americans
          Human
          Finland
          Aged, 80 and Over
          Male
          Genotype
          Prospective Studies
          Aged
          Family Health
          Validation Studies
          Comparative Studies
          Evaluation Research
          Multicenter Studies
          Adult: 19-44 years
          Middle Aged: 45-64 years
          Aged, 80 & over
          Aged: 65+ years
          Female
          Male
      ab: The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neurologically normal control subjects for SNCA multiplication. The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease.
      pubtype: Academic Journal
      doctype:
        research
        Journal Article
      ougenre: Article
    language: English
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