Communauté l’Hémiplégie Alternante

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Actualités de la communauté l’Hémiplégie Alternante

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    Profiles of blood biomarkers in alternating hemiplegia of childhood - Increased MMP-9 and decreased substance P indicates its pathophysiology.
    News, publié il y a environ 1 mois

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    Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by repeated plegic attacks, movement disorders, autonomic phenomena, and developmental delay. To obtain insights into the pathophysiology of AHC, we..

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    Clinical features of nine patients with alternating hemiplegia of childhood
    News, publié il y a 3 mois

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    Abstract

    Aim: To define clinical features of patients with alternating hemiplegia of childhood.

    Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty. Results: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. Conclusion: Trials on new agents like amantadine are necessary for more effective control of the disease.

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    Il meeting annuale sull'emiplegia alternante
    News, publié il y a 3 mois

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    L'emiplegia alternante (AHC o sindrome di emiplegia alternante) è una rara malattia neurologica, con manifestazioni parossistiche molto invalidanti, le cui cause sono ancora sconosciute e per la quale non esiste una cura. Attualmente i casi conosciuti in tutto il mondo sono circa 500, 45 dei quali italiani.

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    I.B.AHC Biobank and Clinical Registry for Alternating Hemiplegia
    News, publié il y a 5 mois

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    I.B.AHC is composed of two main repositories, the Clinical Registry and the Biological Bank (Biobank), designed to collect, organize, keep and share both the clinical data and the biological samples (DNA, RNA and Cellular Lines) of the patients affected by AHC.

    Thanks to I.B.AHC, the collected clinical data and biological material are available for any scientifically valuable and non duplicated study and research on AHC.

    For further information, please contact [email protected]

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    Kiley Smiles Through Rigors of Rare Disorder
    News, publié il y a 6 mois

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    In other ways, Kiley is practically unique;  she suffers from Alternating Hemiplegia of Childhood (AHC), a neurological disorder that’s so rare there are just three or four other children in the surrounding area who are afflicted with it.

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    AHC Sodium Oxybate Trial
    News, publié il y a 6 mois

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    The goal of this study is to evaluate whether the study drug can safely and effectively decrease AHC episodes and improve the quality of life of individuals with AHC.

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    AHC Registry Announcement
    News, publié il y a 6 mois

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    You are asked to enroll in the AHC Registry so that we may quickly and efficiently contact you in the future with information about new treatments for AHC, or about studies for which you may be eligible.

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    AHC Medical Questionnaire Announcement
    News, publié il y a 6 mois

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    The primary benefit is to gain knowledge regarding the characteristics of AHC in children and adults.  There is no immediate personal benefit to you for participating in completing the AHC Questionnaire. However, we hope that information gained will help us in our search for effective therapies in AHC.  Risks include the very small risk of loss of confidentiality that results from any activity involved in disclosing personal information.  You will be asked to submit the AHC Questionnaire once, but we may need to update it in the future. This will involve a minimal time commitment on your part.

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    AHC Daily Episode Log Announcement
    News, publié il y a 6 mois

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    This research is being done to investigate the effectiveness and use of therapies being used to shorten the duration of AHC episodes.

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    Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood (AHC).
    News, publié il y a 7 mois

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    Abstract

    Alternating hemiplegia of childhood (AHC) is a rare neuropediatric disorder classically characterized by episodes of hemiplegia developing in the first months of life, various non-epileptic paroxysmal events and global neurological impairment. If the etiology is unresolved, the disorder is highly suspected to be monogenic with DE NOVO autosomal dominant mutations. A missense mutation in the SLC2A1 gene encoding the facilitative glucose transporter-1 (GLUT1) was recently described in a child fulfilling the existing criteria for the diagnosis of AHC, with the exception of age at onset, thus suggesting a clinical overlap between AHC and GLUT1 deficiency syndrome due to SLC2A1 mutations. We have studied a cohort of 23 patients to investigate whether patients with classical AHC harbor SLC2A1 mutations. Automated Sanger sequencing and MLPA analyses failed to detect any SLC2A1 mutations in the 23 patients analyzed, thus excluding mutations of this gene as a frequent cause of classical AHC.