Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of  FOXG1 -related syndrome

Caporali, Camilla; Signorini, Sabrina; Giorgis, Valentina De; Pichiecchio, Anna; Zuffardi, Orsetta; Orcesi, Simona

doi:10.1016/j.ejpn.2018.01.007

Cited by 14 publications

(19 citation statements)

References 12 publications

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“…ACC has been also associated with mutation of FOXG-1 gene on chromosome 1 which leads to a peculiar phenotype characterized by callosal agenesis and delayed myelinization [26][27] . Children with this rare autosomal dominant disorder (also known as "atypical Rett syndrome") show neurodevelopmental delay and Rett-like features (hypotonia, motor disorders, gastroesophageal reflux disease and microcephaly) 28 .…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies

Leombroni

Khalil

Liberati

et al. 2018

European Journal of Paediatric Neurology

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Prosencephalic development is characterized by three sequential events: prosencephalic formation (at the rostral end of the neural tube), cleavage and midline development 1-2. In particular, during prosencephalic cleavage, three main splitting events occurs: horizontal, to form the paired optic vescicles, olfactory bulbs and tracts, transverse, in which telencephalon separates from diecephalon and sagittal, to form the cerebral hemispheres, lateral ventricles and basal ganglia. Prosencephalic development is characterized by appearance of three plates of tissue: the commissural, the chiasmatic and the hypothalamic plates. These structures are fundamental in the development of the corpus callosum (CC), cavum septum pellucidi (CSP), optic nerve chiasm and hypothalamic

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Section: Accepted Manuscriptmentioning

confidence: 99%

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies

Leombroni

Khalil

Liberati

et al. 2018

European Journal of Paediatric Neurology

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“…This syndrome is characterized by developmental delays, autism-like traits, microcephaly, absence of language, severe cognitive disabilities, early-onset dyskinesia, stereotypic hand movements, epilepsy, and corpus callosum dysgenesis (5, 6). Fewer than 90 cases have been reported worldwide to date (7–9), and the disease is also very rare in Taiwan (10).…”

Section: Introductionmentioning

confidence: 99%

“…Early-onset hyperkinetic movement disorders, such as choreoathetosis and orolingual/facial dyskinesias, which are usually non-responsive to medication, are the hallmarks of this disease (7, 11). However, progression of the movement disorders overtime has not been reported.…”

Section: Introductionmentioning

confidence: 99%

Cognition and Evolution of Movement Disorders of FOXG1-Related Syndrome

Wong

Hsu

et al. 2019

Front. Neurol.

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FOXG1 -related syndrome is a rare neurodevelopmental encephalopathy characterized by early onset hyperkinetic movement disorders, absent language, autistic features, epilepsy, and severe cognitive impairment. However, detailed evaluation of cognition and evolution of movement disorders over time have not been clearly described before. In this study, we performed whole-exome sequencing in a cohort with unknown severe encephalopathy and movement disorders, with/without autistic behaviors. We identified FOXG1 mutations in three patients. One of them had a novel mutation that has not been described before. The neuropsychological test by Mullen Scales of Early Learning (MSEL) showed severe psychomotor impairments in all patients. There were uneven cognitive abilities in terms of verbal and non-verbal cognitive domains in all of them, with approximately 2 months differences. Gross motor skills and expressive language were more severely affected than the other domains in all the patients. All individuals had early onset hyperkinetic movement disorders. The movement disorders in one of our patients changed from predominantly hyperkinetic in early childhood to more hypokinetic in adolescence with the development of dystonia. To the best of our knowledge, this evolution had never been described before. In conclusion, individuals with FOXG1 -related syndrome may show clinical progression from hyperkinetic to hypokinetic features over time. There were also uneven cognitive abilities in verbal and non-verbal cognitive domains. The FOXG1 mutation should be considered in individuals with a history of hyperkinetic movements, microcephaly, and uneven cognitive abilities with characteristic brain images.

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“…FOXG1‐ related disorders may involve several phenotypes (Seltzer et al, ; Caporali et al, ). The clinical characteristics related to 14q duplication syndrome that involves the FOXG1 gene include epilepsy, intellectual disability, speech problems, and dysmorphic features.…”

Section: Resultsmentioning

confidence: 99%

Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome

Çetin

Yalçınkaya

Karaman

et al. 2018

Epileptic Disorders

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Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2‐21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array‐CGH analysis revealed de novo 14q11.2‐21.1 duplication, spanning ∼20 Mb (minimal interval chr14:20203610_40396835). The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike‐and‐wave activity on EEG. The possibility of this chromosomal abnormality should be kept in mind in patients with developmental delay, epilepsy, and hypsarrtyhmia, in the absence of any structural brain lesion or metabolic aetiology.

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Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1 -related syndrome

Cited by 14 publications

References 12 publications

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies

Cognition and Evolution of Movement Disorders of FOXG1-Related Syndrome

Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome

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