A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus

Geoghegan, Aisling R; Hussona, Mariam Al; Beauchamp, Nick; Hutchinson, Michael; O'Riordan, MB Sean; Lynch, Tim; Webb, David

doi:10.1002/mds.27694

Cited by 10 publications

(5 citation statements)

References 4 publications

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“…Dystonia distribution was segmental or focal in 7 patients, and clinical course was nonprogressive in 11 patients, while most of the previously reported patients with GNAO1 ‐related movement disorders had generalized and rapidly progressive dystonia 2 . Dystonia topography revealed prominent upper‐body distribution in most of our patients, reminiscent of the clinical pictures associated with other dystonia‐related genes, such as GNAL 20,21 or ANO3 22,23 . Seven patients also exhibited mild parkinsonism, which is consistent with the role of G αo in the signal transduction within the striatal projection neurons downstream of the dopamine receptors 6,24 …”

Section: Discussionsupporting

confidence: 82%

Highlighting the Dystonic Phenotype Related to GNAO1

et al. 2022

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Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea. Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1related phenotype with prominent movement disorders. Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded. Results: Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia

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Section: Discussionsupporting

confidence: 82%

Highlighting the Dystonic Phenotype Related to GNAO1

et al. 2022

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“…As for the phenotypes, DYT-GNAL most commonly presents in adulthood with an isolated segmental dystonia. However, GNAL mutations have recently been reported to cause childhood dystonia and the phenotype has been expanded to encompass myoclonus-dystonia [1,3,4]. Although the dystonic phenotype in our patient was consistent with what has been previously described, cerebellar involvement has not yet been reported.…”

supporting

confidence: 81%

Childhood‐onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations

Erro

Fonzo

Percetti

et al. 2020

Euro J of Neurology

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“…Involvement of other body regions including craniofacial, limb (upper > lower), laryngeal, and axial dystonia was rarer. Tremor, mostly as dystonic head tremor, was reported in 18 patients and myoclonus in 2 39,40 . Nonmotor signs and symptoms were rarely reported (>76.7% missing).…”

Section: Resultsmentioning

confidence: 99%

“…Tremor, mostly as dystonic head tremor, was reported in 18 patients and myoclonus in 2. 39,40 Nonmotor signs and symptoms were rarely reported (>76.7% missing).…”

Section: Gnalmentioning

confidence: 99%

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

et al. 2021

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A BS TRACT: This comprehensive MDSGene review is devoted to 7 genes -TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCAmutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of~1200 citations. Phenotypic and genotypic data on~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A, THAP1, PRKRA, KMT2B, or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck (GNAL) or the lower limbs (KMT2B), whereas site of onset in DYT-TOR1A, DYT-THAP1, DYT-ANO3, DYT-PRKRA, and DYT-HPCA was broader. However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lower ones. For ANO3, a segmental/multifocal distribution was typical, whereas TOR1A, PRKRA, KMT2B, and HPCA mutation carriers commonly developed generalized dystonia. THAP1 mutation carriers presented with focal, segmental/multifocal, or generalized dystonia in almost equal proportions. GNAL mutation carriers rarely showed generalization. This review provides a comprehensive overview of the current knowledge of hereditary isolated dystonia. The data are also available in an online database (http://www.mdsgene.org), which additionally offers descriptive summary statistics.

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A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus

Cited by 10 publications

References 4 publications

Highlighting the Dystonic Phenotype Related to GNAO1

Highlighting the Dystonic Phenotype Related to GNAO1

Childhood‐onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

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