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DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
Lorenzo-Betancor, O; Ogaki, K; Soto-Ortolaza, A I; Labbe, C; Walton, R L; Strongosky, A J; van Gerpen, J A; Uitti, R J; McLean, P J; Springer, W; Siuda, J; Opala, G; Krygowska-Wajs, A; Barcikowska, M; Czyzewski, K; McCarthy, A; Lynch, T; Puschmann, A; Rektorova, I; Sanotsky, Y; Vilariño-Güell, C; Farrer, M J; Ferman, T J; Boeve, B F; Petersen, R C; Parisi, J E; Graff-Radford, N R; Dickson, D W; Wszolek, Z K; Ross, O A.
  • Lorenzo-Betancor O; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Ogaki K; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Soto-Ortolaza AI; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Labbe C; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Strongosky AJ; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • van Gerpen JA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Uitti RJ; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • McLean PJ; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Springer W; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Siuda J; Department of Neurology, Medical University of Silesia, Katowice, Poland.
  • Opala G; Department of Neurology, Medical University of Silesia, Katowice, Poland.
  • Krygowska-Wajs A; Department of Neurology, Jagiellonian University, Krakow, Poland.
  • Barcikowska M; Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Czyzewski K; Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland.
  • McCarthy A; Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland.
  • Lynch T; Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland.
  • Puschmann A; Department of Clinical Sciences, Lund University, Lund, Sweden.
  • Rektorova I; Department of Neurology, Skåne University Hospital, Lund, Sweden.
  • Sanotsky Y; School of Medicine, Central European Institute of Technology and First Department of Neurology, Masaryk University, Brno, Czech Republic.
  • Vilariño-Güell C; Lviv Regional Clinical Hospital, Lviv, Ukraine.
  • Farrer MJ; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Ferman TJ; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Boeve BF; Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.
  • Petersen RC; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
  • Parisi JE; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
  • Graff-Radford NR; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.
  • Dickson DW; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Wszolek ZK; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Ross OA; Department of Pathology, Mayo Clinic, Jacksonville, FL, USA.
Eur J Neurol ; 22(9): 1323-5, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26278106
ABSTRACT

BACKGROUND:

Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family.

METHODS:

In the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD).

RESULTS:

Our sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed.

CONCLUSION:

Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Chaperonas Moleculares / Enfermedad por Cuerpos de Lewy Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País como asunto: Europa Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Chaperonas Moleculares / Enfermedad por Cuerpos de Lewy Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País como asunto: Europa Idioma: En Año: 2015 Tipo del documento: Article