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Perioperative Evaluation of Cerebellar Tumors

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Purpose of the Study: This is a prospective, cohort study to evaluate the impact of cerebellar functional topography on perioperative outcomes related to cognition and motor ataxia in patients with cerebellar tumors. Primary Aim: The primary aim of this study is to determine if patients with a

A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma

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This proposal contains two distinct aims to be investigated in two similar but distinct groups of patients. Aim 1: To examine the mechanistic effect of 4AP on the return of sensorimotor function and EDX sensitivity in the setting of nerve dysfunction from orthopaedic trauma. This aim tests the

Induced Pluripotent Stem Cells for Niemann Pick Disease

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Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or

Natural History Study of ATP1A3-related Disease

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Alternating hemiplegia of childhood (AHC) is a rare very disabling neurodevelopmental syndrome caused by mutations in the gene ATP1A3. AHC is characterized by paroxysmal events including attacks of hemiplegia (weakness), dystonia (painful stiffening), oculomotor abnormalities and epileptic seizures.

Continuous Glucose Monitoring and Hypoglycemia Unawareness in Type 1 Diabetes

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To confirm hypoglycemia unawareness, patients answered a questionnaire based on the items explored by the model of Clarke 19 about hypoglycemia and hypoglycemia awareness. The eligibility of patients was confirmed by a blinded CG M recording using the trademark iPro ™ 2 sensor for 6 days. During

Management Of Acute Disseminating Encephalomyelitis

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Acute disseminated encephalomyelitis can occur at any age, but usually affects children and young adults. The mean age of clinical presentation in pediatric cohorts ranges from 5 to 8 years. The annual incidence of Acute disseminated encephalomyelitis is reported to be 0.4-0.8 per 100,000 and the

BIOtinidase Test In Optic-Neuropathy

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Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome

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Angelman syndrome (AS) is a well-recognized cause of disability in children who present with movement or balance disorder, usually ataxia and/or tremulous movement of the limbs, severe speech and cognitive delay behavior disorders and was initially described by Harry Angelman as the " happy puppet

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

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This is an open-label, single arm trial of orally-administered C7 in G1D. Subjects will replace a fixed percentage of their daily caloric intake (based on the results of Protocol 1) with C7 for 6 months, undergo full evaluation and discontinuation of treatment at a 6 month visit, and return for an

Investigation of the Clinical Safety and Efficacy of Long-term Treatment With Fycompa Tablets in Adolescence Epilepsy Patients With Partial-onset Seizures (With or Without Secondary Generalized Seizures) or Primary Generalized Tonic-clonic Seizures

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Investigation of the Clinical Safety and Efficacy of Long-term Treatment With Fycompa Tablets in Adult Epilepsy Patients With Partial-onset Seizures (With or Without Secondary Generalized Seizures) or Primary Generalized Tonic-clonic Seizures

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Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae

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Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This

Retrospective Evaluation of Perampanel in a French Neurology and Epileptology Department (Hospices Civil de Lyon)

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Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)

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Gangliosidosis: Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system. If gangliosides accumulate pathologically

The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia

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Familial dysautonomia (FD) is an autosomal recessive disease caused by mutations in the I-B kinase complex associated protein (IKBKAP) gene sequence (Anderson et al., 2001; Slaugenhaupt et al., 2001). The disorder affects the development of sensory nerves, resulting in impaired pain and temperature

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