Clara Eleonora Antonello

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano et autres

Very long-chain fatty acid elongase-1 (ELOVL1) is essential for fatty acid elongation and is widely expressed in numerous tissues, including the central nervous system, being involved in the elongation of very long-chain fatty acids (VLCFAs), which are essential for biological processes such …

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Early‐Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2 ‐Related Phenotypic Spectrum

Fabio Bruschi, Clara Eleonora Antonello, Cecilia Parazzini, Ylenia Vaia et autres

Variants in ATP8A2 gene have been traditionally associated with cerebellar ataxia, mental retardation and disequilibrium syndrome type 4 (CAMRQ4). However, this nomenclature fails to capture the predominantly extrapyramidal and encephalopathic nature of the most severe presentation of the ATP8A2-related phenotypic spectrum. We …

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Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Fabio Bruschi, Ylenia Vaia, Clara Eleonora Antonello, Marco Spada et autres

BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X-linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation. Dopaminergic circuit involvement is …

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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Eleonora Antonello et autres

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening (NBS) program for X-ALD has been …

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Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Silvia Masnada, Catherine Sarret, Clara Eleonora Antonello, Ala Fadilah et autres

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Ruxolitinib in Aicardi-Goutières syndrome

Eleonora Mura, Silvia Masnada, Clara Eleonora Antonello, Cecilia Parazzini et autres

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Ruxolitinib in Aicardi-Goutières Syndrome

Eleonora Mura, Silvia Masnada, Clara Eleonora Antonello, Cecilia Parazzini et autres

Abstract Aicardi Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an …

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Comparison between an Ascenda and a silicone catheter in intrathecal baclofen therapy in pediatric patients: analysis of complications

Francesco Motta, Clara Eleonora Antonello

OBJECTIVE In this single-center study the authors investigated the complications occurring before and after the introduction of the new Ascenda intrathecal catheter (Medtronic Inc.) in pediatric patients treated with intrathecal baclofen therapy (ITB) for spasticity and/or dystonia. METHODS This was a retrospective …

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Erratum: Analysis of complications in 430 consecutive pediatric patients treated with intrathecal baclofen therapy: 14-year experience

Francesco Motta, Clara Eleonora Antonello

"Erratum: Analysis of complications in 430 consecutive pediatric patients treated with intrathecal baclofen therapy: 14-year experience" published on May 2014 by American Association of Neurological Surgeons.

Analysis of complications in 430 consecutive pediatric patients treated with intrathecal baclofen therapy: 14-year experience

Francesco Motta, Clara Eleonora Antonello

OBJECT: This single-center study investigated adverse events that occurred in children and adolescent patients treated with intrathecal baclofen (ITB) therapy for spasticity and/or dystonia. METHODS: In a 14-year period, 430 consecutive patients with a mean age of 13.3 ± 5.9 years received …

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Intrathecal baclofen and motor function in cerebral palsy

Francesco Motta, Clara Eleonora Antonello, Cecilia Stignani

AIM: The aim of this retrospective analysis was to determine the impact of intrathecal baclofen (ITB) therapy on motor function in patients with cerebral palsy (CP). METHOD: We studied 37 patients (18 males, 19 females) with CP treated with ITB (mean age …

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Forced-use, Without Therapy, in Children With Hemiplegia

Francesco Motta, Clara Eleonora Antonello, Cecilia Stignani

BACKGROUND: Forced use (FU) is an emerging treatment for children with hemiplegic cerebral palsy (CP). It involves constraining the unaffected arm and no additional treatment of the affected arm. Our study examined a new approach to FU in children with hemiplegic CP: …

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