Delineation of the movement disorders associated with FOXG1 mutations

doi:10.1212/WNL.0000000000002585

. 2016 May 10;86(19):1794-800.

doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.

Delineation of the movement disorders associated with FOXG1 mutations

Apostolos Papandreou¹, Ruth B Schneider¹, Erika F Augustine¹, Joanne Ng¹, Kshitij Mankad¹, Esther Meyer¹, Amy McTague¹, Adeline Ngoh¹, Cheryl Hemingway¹, Robert Robinson¹, Sophia M Varadkar¹, Maria Kinali¹, Vincenzo Salpietro¹, Margaret C O'Driscoll¹, S Nigel Basheer¹, Richard I Webster¹, Shekeeb S Mohammad¹, Shpresa Pula¹, Marian McGowan¹, Natalie Trump¹, Lucy Jenkins¹, Frances Elmslie¹, Richard H Scott¹, Jane A Hurst¹, Belen Perez-Duenas¹, Alexander R Paciorkowski¹, Manju A Kurian²

Affiliations

¹ From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.
² From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain. manju.kurian@ucl.ac.uk.

PMID: 27029630
PMCID: PMC4862244
DOI: 10.1212/WNL.0000000000002585

Delineation of the movement disorders associated with FOXG1 mutations

Apostolos Papandreou et al. Neurology. 2016.

. 2016 May 10;86(19):1794-800.

doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.

Authors

Affiliations

¹ From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.
² From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain. manju.kurian@ucl.ac.uk.

PMID: 27029630
PMCID: PMC4862244
DOI: 10.1212/WNL.0000000000002585

Abstract

Objective: The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations.

Methods: We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. We administered a telephone-based questionnaire regarding the functional impact of the movement disorders and perceived efficacy of treatment to the caregivers of one cohort of participants.

Results: We identified 28 patients with FOXG1 mutations, of whom 6 had previously unreported mutations. A wide variety of movement disorders were identified, with dystonia, choreoathetosis, and orolingual/facial dyskinesias most commonly present. Ninety-three percent of patients had a mixed movement disorder phenotype. In contrast to the phenotype classically described with FOXG1 mutations, 4 patients with missense mutations had a milder phenotype, with independent ambulation, spoken language, and normocephaly. Hyperkinetic involuntary movements were a major clinical feature in these patients. Of the symptomatic treatments targeted to control abnormal involuntary movements, most did not emerge as clearly beneficial, although 4 patients had a caregiver-reported response to levodopa.

Conclusions: Abnormal involuntary movements are a major feature of FOXG1 mutations. Our study delineates the spectrum of movement disorders and confirms an expanding clinical phenotype. Symptomatic treatment may be considered for severe or disabling cases, although further research regarding potential treatment strategies is necessary.

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References

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1. Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012;2:153–163. - PMC - PubMed
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[1] Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89–93. - PMC - PubMed

[2] Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89–93. - PMC - PubMed

[3] Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012;2:153–163. - PMC - PubMed

[4] Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012;2:153–163. - PMC - PubMed

[5] Dastidar SG, Landrieu PM, D'Mello SR. FoxG1 promotes the survival of postmitotic neurons. J Neurosci 2011;31:402–413. - PMC - PubMed

[6] Dastidar SG, Landrieu PM, D'Mello SR. FoxG1 promotes the survival of postmitotic neurons. J Neurosci 2011;31:402–413. - PMC - PubMed

[7] Philippe C, Amsallem D, Francannet C, et al. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet 2010;47:59–65. - PubMed

[8] Philippe C, Amsallem D, Francannet C, et al. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet 2010;47:59–65. - PubMed

[9] Mencarelli MA, Spanhol-Rosseto A, Artuso R, et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 2010;47:49–53. - PubMed

[10] Mencarelli MA, Spanhol-Rosseto A, Artuso R, et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 2010;47:49–53. - PubMed

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Delineation of the movement disorders associated with FOXG1 mutations

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Delineation of the movement disorders associated with FOXG1 mutations

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