Novel
            <i>GNB1</i>
            missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Steinrücke, Sofia; Lohmann, Katja; Domingo, Aloysius; Rolfs, Arndt; Bäumer, Tobias; Spiegler, Juliane; Hartmann, Corinna; Münchau, Alexander

doi:10.1212/nxg.0000000000000106

Cited by 37 publications

(30 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…GNB1 encodes guanine nucleotide-binding protein (G protein) subunit beta-1, a protein important in transducing signalling through G-protein coupled receptors expressed in cortical, striatal, and dopaminergic neurons. 6,7 Our patient is the first described with GNB1 myoclonusdystonia undergoing DBS with remarkable initial benefit and sustained functional improvement albeit worsening dystonia at 1-year follow-up likely the result of the progressive nature of this disorder. GNB1 is a differential diagnosis of myoclonusdystonia, and DBS should be considered in these cases.…”

mentioning

confidence: 82%

“…Since the initial description, 46 cases of GNB1 have been published, and movement disorders have been documented in 18 cases . Dystonia is most common and has been associated with missense mutations causing p.Ile80 substitution, but myoclonus, chorea, athetosis, and/or tics are also noted . Only Steinrucke and colleagues have detailed the phenomenology of the movement disorder in a report of a 15‐year‐old girl with generalized dystonia and myoclonus and a missense mutation adjacent to our patient's, c.353A>G, p.(Asp118Gly).…”

mentioning

confidence: 92%

“…GNB1 encodes guanine nucleotide‐binding protein (G protein) subunit beta‐1, a protein important in transducing signalling through G‐protein coupled receptors expressed in cortical, striatal, and dopaminergic neurons …”

mentioning

confidence: 99%

See 2 more Smart Citations

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

et al. 2019

View full text Add to dashboard Cite

mentioning

confidence: 82%

mentioning

confidence: 92%

See 1 more Smart Citation

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

et al. 2019

View full text Add to dashboard Cite

“…112 Defects in autophagy, another innate cellular system of cargo disposal and recycling, also lead to mixed epilepsy/ movement disorder phenotypes. [121][122][123] Gb1 is the bsubunit of a guanine nucleotide-binding protein that forms heterotrimeric complexes with G protein subunits a and c. Gb1 is involved in the same cellular pathway as GNAO1 and interacts with GNAL (encoded by the gene mutated in DYT25 dystonia), 122 which might provide a causative link to the combined epilepsy and movement disorder phenotype seen in these patients. Beta-propeller protein-associated neurodegeneration manifests with epilepsy of multiple seizure types (febrile, focal with impaired awareness, absences, atonic, tonic, epileptic spasms, GTCS, and myoclonic, or even DEE or West syndrome), 114 MECP2-like hand wringing stereotypies, and, later in the disease course, neurological regression, dystonia, and prominent parkinsonian features.…”

Section: Genes Encoding Transportersmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

View full text Add to dashboard Cite

An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

show abstract

“…With the advent of NGS new genes associated with hyperkinetic movement disorders have been identified that can mimic dyskinetic CP, including PDE10A, 56,57 PDE2A, 58 GPR88, 59 and GNB1. 60,61…”

Section: Other Hyperkinetic Movement Disordersmentioning

confidence: 99%

Genetic mimics of cerebral palsy

et al. 2019

View full text Add to dashboard Cite

The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease‐modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. © 2019 International Parkinson and Movement Disorder Society

show abstract

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Cited by 37 publications

References 6 publications

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

The expanding spectrum of movement disorders in genetic epilepsies

Genetic mimics of cerebral palsy

Contact Info

Product

Resources

About