Roman Praschberger1,2, Bettina Balint3,4, Niccolo E Mencacci1, Joshua Hersheson1, Ignacio Rubio-Agusti5, Dimitri M Kullmann2, Conceição Bettencourt1, Kailash Bhatia3, Henry Houlden1. 1. Department of Molecular Neuroscience UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery (NHNN) London United Kingdom. 2. Department of Clinical and Experimental Epilepsy UCL Institute of Neurology London United Kingdom. 3. Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom. 4. Department of Neurology University Hospital Heidelberg Heidelberg Germany. 5. Unidad de Trastornos del Movimiento Hospital Universitario La Fe Valencia Spain.
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.
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.
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