Portal de investigación
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Praschberger, R
- Balint, B
- Mencacci, NE
- Hersheson, J
- Kullmann, DM
- Bettencourt, C
- Bhatia, K
- Houlden, H
Abstract
Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.
Datos de la publicación
- ISSN/ISSNe:
- 2330-1619, 2330-1619
- Tipo:
- Article
- Páginas:
- 271-273
- DOI:
- 10.1002/mdc3.12190
Movement Disorders Clinical Practice WILEY
Citas Recibidas en Web of Science: 15
Documentos
- No hay documentos
Filiaciones
Keywords
- GOSR2; ataxia; myoclonus; progressive myoclonus ataxia; progressive myoclonus epilepsy
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Investigador Principal: JOSÉ IGNACIO TEMBL FERRAIRO
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Cita
Praschberger R,Balint B,Mencacci NE,Hersheson J,Rubio I,Kullmann DM,Bettencourt C,Bhatia K,Houlden H. Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene. Mov Disord Clin Pract. 2015. 2. (3):p. 271-273.