<i>GOSR2</i>: a progressive myoclonus epilepsy gene

Dibbens, Leanne M.; Rubboli, Guido

doi:10.1684/epd.2016.0848

Cited by 24 publications

(19 citation statements)

References 5 publications

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“…Associated features of underlying etiologies, which were previously described in literature, were confirmed in our patients as well. The 4 patients identified with GOSR2 presented with areflexia and deformities of the feet, although no scoliosis was seen in our cohort . Hypotonia and cognitive decline were observed as associated features of PMA caused by a mutation in early B cell factor 3 gene ( EBF3 ), and speech delay was observed in the patient with a mutation in the nonprogressive congenital cerebellar ataxia gene …”

Section: Discussionmentioning

confidence: 69%

“…The 4 patients identified with GOSR2 presented with areflexia and deformities of the feet, although no scoliosis was seen in our cohort. 18 Hypotonia and cognitive decline were observed as associated features of PMA caused by a mutation in early B cell factor 3 gene (EBF3), and speech delay was observed in the patient with a mutation in the nonprogressive congenital cerebellar ataxia gene. 19,20 From our data it appears unlikely that ICM is the predecessor of PMA as only 1 of the PMA patients started with myoclonic jerks.…”

Section: Discussionmentioning

confidence: 99%

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Progressive myoclonus ataxia: Time for a new definition?

et al. 2018

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Background: The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes. Objectives: The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isolated cortical myoclonus. Methods: A retro‐ and prospective analysis was performed in our tertiary referral center between 1994 and 2014. Inclusion criteria for progressive myoclonus ataxia patients were the presence of myoclonus and ataxia with or without infrequent (all types, treatment responsive) epileptic seizures. Inclusion criteria for isolated cortical myoclonus was the presence of isolated cortical myoclonus. Clinical and electrophysiological characteristics data were systematically scored. Results: A total of 14 progressive myoclonus ataxia patients (males, 7; females, 7), median age 14.5 years, and 8 isolated cortical myoclonus patients (males, 2; females, 6), median age 23.5 years, were identified. In 93% of the progressive myoclonus ataxia patients, ataxia started first (median 2 years) followed by myoclonus (4 years) and finally infrequent epilepsy (9.3 years), with a progressive course in 93%. In 64% of the progressive myoclonus ataxia patients, a genetic underlying etiology was identified, including 3 not earlier reported causative progressive myoclonus ataxia genes. In isolated cortical myoclonus patients, myoclonus started at (median) 12 years with progression over time in 63% and a single epileptic seizure in 1 patient. No genetic causes were identified. Conclusion: Using a refined definition, we could create a rather homogenous progressive myoclonus ataxia group. Patients with isolated cortical myoclonus have a different course and do not appear to evolve in progressive myoclonus ataxia. The refined progressive myoclonus ataxia definition is a successful first step toward creating a separate syndrome for both clinical practice and future genetic research. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Progressive myoclonus ataxia: Time for a new definition?

et al. 2018

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“…Progressive myoclonic epilepsies (PME) are a group of heterogeneous neurodegenerative diseases that are rare and clinically characterized by epileptic seizures, prominent myoclonus and progressive motor, and cognitive decline (Genton, Delgado Escueta, Serratosa, & Bureau, ). Since, the discovery of the first molecular cause more than 20 years ago (Genton, Striano, & Minassian, ; Lalioti et al, ; Pennacchio et al, ), there are currently ten main diagnostic entities described with an expanding array of associated gene defects (Dibbens & Rubboli, ; Kalviainen, ; Nascimento & Andrade, ; Roussel, Lomas, & Crowther, ; Van Bogaert, ). A subset of these entities involves the intracellular accumulation of certain molecules that evade degradation and result in cellular dysfunction and loss.…”

Section: Introductionmentioning

confidence: 99%

SERPINI1 pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy

Ranza

Garcia-Tarodo

Varvagiannis

et al. 2017

American J of Med Genetics Pt A

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Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies.

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“…The main clinical features of the GOSR2-associated PME are early-onset ataxia, action myoclonus and seizures, relative preservation of cognitive function until the late stages of the disease. GOSR2-associated PME is a rare disease with very few cases reported so far [34,35]. Most PME patients are homozygous for a p.Gly144Trp mutation and develop similar clinical presentations.…”

Section: Discussionmentioning

confidence: 99%

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Zhang

Yang

Niu

et al. 2020

Acta Epileptologica

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Background: Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical features and study the genetic causes of PME patients. Methods: Sanger sequencing of the target gene, Next Generation Sequencing (NGS) panels of epilepsy, trio-based Whole Exome Sequencing (WES) and detection of cytosine-adenine-guanine (CAG) repeat number were used to investigate the genetic causes of PME patients. Results: Thirty-eight children with PME whose seizure onset age ranged from 3 months to 12 years were collected from February 2012 to November 2019 in three hospitals in Beijing, China. The seizure types included myoclonic seizures (n = 38), focal seizures (n = 19), generalized tonic-clonie seizure (GTCS) (n = 13), absence seizures (n = 4), atonic seizures (n = 3), epileptic spasms (n = 2) and tonic seizures (n = 1). Twenty-seven cases were sporadic and 11 had family members affected. Established PME-related genes were identified in 30 out of 38 (78.9%) patients who had either recessively inherited or de novo heterozygous mutations. Among these 30 cases, there were 12 cases (31.6%) of neuronal ceroid lipofuscinoses (the causing gene contains TPP1, PPT1, CLN5, CLN6 and MFSD8), two cases of sialidosis (the causing gene is NEU1), two cases of neuronopathic Gaucher disease (the causing gene is GBA), one case of spinal muscular atrophy-progressive myoclonic epilepsy (the causing gene is ASAH1), four cases of KCNC1 mutation-related PME, four cases of KCTD7 mutation-related PME, two cases of TBC1D24 mutation-related PME, one case of GOSR2 related PME, and two of dentatorubral-pallidoluysian atrophy (the causing gene is ATN1). In total, 13 PME genes were identified in our cohort. The etiology was not clear in eight patients. Conclusion: PME is a group of clinically and genetically heterogeneous diseases. Genetic diagnosis was clear in 78.9% of PME patients. Various of genetic testing methods could increase the rate of genetic diagnosis. Neuronal ceroid lipofuscinoses (NCL) is the most common etiology of PME in children. Nearly one third PME children were diagnosed with NCL. GOSR2 related PME was in our cohort in Asia for the first time.

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GOSR2: a progressive myoclonus epilepsy gene

Cited by 24 publications

References 5 publications

Progressive myoclonus ataxia: Time for a new definition?

Progressive myoclonus ataxia: Time for a new definition?

SERPINI1 pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

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