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A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
Vilas, Dolores; Fernández-Santiago, Rubén; Sanchez, Elena; Azcona, Luis J; Santos-Montes, Meritxell; Casquero, Pilar; Argandoña, Lucía; Tolosa, Eduardo; Paisán-Ruiz, Coro.
Afiliación
  • Vilas D; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.
  • Fernández-Santiago R; Department of Neurology, Laboratory of Neurodegenerative Disorders, Hospital Clínic de Barcelona, Barcelona, Spain.
  • Sanchez E; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.
  • Azcona LJ; Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Spain.
  • Santos-Montes M; Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.
  • Casquero P; Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.
  • Argandoña L; Department of Neurosciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.
  • Tolosa E; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.
  • Paisán-Ruiz C; Neurology Service, Hospital Mateu Orfila, Maó, Menorca, Spain.
J Parkinsons Dis ; 7(3): 459-463, 2017.
Article en En | MEDLINE | ID: mdl-28671144
BACKGROUND: Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not been reported. OBJECTIVE: To describe a case of sporadic PD carrying a novel ACMSD mutation. METHODS: As part of a genetic study to identify potential pathogenic gene defects related to PD in the Mediterranean island Menorca, an initial group of 62 PD patients underwent mutational screening using a panel-based sequencing approach. RESULTS: We report a 74-years-old man with sporadic PD who developed tremor in his right hand and slowness. On examination, moderate rigidity, asymmetric bradykinesia, and bilateral action tremor were present. He was started on levodopa with significant improvement. Two years later, he developed wearing off phenomena. The genetic study in the patient identified a novel ACMSD mutation resulting in p.Glu298Lys amino-acid change which was not present in neurologically normal population. CONCLUSIONS: Our data suggest that not only common genetic variability but also rare variants in ACMSD alone or in combination with other risk factors might increase the risk of PD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Carboxiliasas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Aged / Humans / Male Idioma: En Revista: J Parkinsons Dis Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Carboxiliasas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Aged / Humans / Male Idioma: En Revista: J Parkinsons Dis Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Países Bajos