Dina Amrom - Academia.edu (original) (raw)
Papers by Dina Amrom
European Journal of Paediatric Neurology, 2019
Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Det... more Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotypeephenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.
Journal of neuroradiology. Journal de neuroradiologie, 1993
Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating condition of the central nerv... more Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating condition of the central nervous system, usually developing after a viral infection or vaccination. We report a case of ADEM predominantly affecting the spinal cord in an 8-year old boy evaluated by MRI. The radiographic picture consisted of multiple focal lesions of the spinal cord, a left posterior thalamic lesion and a subcortical right posterior parietal lesion. These lesions regressed several weeks after corticosteroid treatment. The clinical presentation, the laboratory results and the radiological findings suggest the diagnosis of ADEM secondary to viral infection by Coxsackie B.
The Causes of Epilepsy
The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic sha... more The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at rest and is most noticeable when trying to make small movements, such as writing. Over time, tremors can affect other parts of the body, such as the head, torso, legs, and tongue. Eventually, the tremors worsen to become myoclonic jerks, which can be triggered by voluntary movements or the intention to move (action myoclonus). These myoclonic jerks typically occur in the torso; upper and lower limbs; and face, particularly the muscles around the mouth and the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can worsen the myoclonus. Some affected individuals develop seizures, a loss of sensation and weakness in the limbs (peripheral neuropathy), or hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss). Severe seizures or myoclonus can be life-threatening.
American Journal of Medical Genetics Part A
Neuron, Jan 5, 2018
Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable... more Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel Na1.3. Pathogenic Na1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epilepsy; they presented with prominent speech and oral motor dysfunction, implicating SCN3A in prenatal development of human cortical language areas. The development of this disorder parallels SCN3A expression, which we observed to be highest early in fetal cortical development in progenitor cells of the outer subventricular zone and cortical plate neurons and decreased postnatally, when SCN1A (Na1.1) expression increased. Disrupted cerebral cortical folding and neuronal migratio...
European Journal of Human Genetics
Eur J Paediatr Neurol, 1999
Rationale: Periventricular grey matter heterotopia is a neuronal migration disorder often associa... more Rationale: Periventricular grey matter heterotopia is a neuronal migration disorder often associated with epilepsy. Most cases are of the nodular type (PNH). A Linear variant (PLH) was rarely acknowledged and described in only 4 unrelated patients; one case with complex structural anomalies (Epilepsia, 00;41:352), and three with mild gyral abnormalities but severe intellectual disabilities (Brain, 06;129:1892). We report a series of three new unrelated patients with PLH and epilepsy. Methods: In addition to the description of PLH, we looked for the presence of anomalies in the cerebral cortex, midline structures, hippocampal formation and posterior fossa. We correlated the findings with clinical, EEG and functional imaging results. Genetic tests were performed in all patients. Results: Patient1 – A 42 yo female (French-Canadian and Lebanese ancestry) without pre/perinatal antecedents, risk factors or family history of neurological disorder. Seizures started at 16 yo and semiology wa...
Clinical Neurophysiology, 2014
New England Journal of Medicine, 2014
European Journal of Paediatric Neurology, 2019
Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Det... more Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotypeephenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.
Journal of neuroradiology. Journal de neuroradiologie, 1993
Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating condition of the central nerv... more Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating condition of the central nervous system, usually developing after a viral infection or vaccination. We report a case of ADEM predominantly affecting the spinal cord in an 8-year old boy evaluated by MRI. The radiographic picture consisted of multiple focal lesions of the spinal cord, a left posterior thalamic lesion and a subcortical right posterior parietal lesion. These lesions regressed several weeks after corticosteroid treatment. The clinical presentation, the laboratory results and the radiological findings suggest the diagnosis of ADEM secondary to viral infection by Coxsackie B.
The Causes of Epilepsy
The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic sha... more The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at rest and is most noticeable when trying to make small movements, such as writing. Over time, tremors can affect other parts of the body, such as the head, torso, legs, and tongue. Eventually, the tremors worsen to become myoclonic jerks, which can be triggered by voluntary movements or the intention to move (action myoclonus). These myoclonic jerks typically occur in the torso; upper and lower limbs; and face, particularly the muscles around the mouth and the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can worsen the myoclonus. Some affected individuals develop seizures, a loss of sensation and weakness in the limbs (peripheral neuropathy), or hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss). Severe seizures or myoclonus can be life-threatening.
American Journal of Medical Genetics Part A
Neuron, Jan 5, 2018
Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable... more Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel Na1.3. Pathogenic Na1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epilepsy; they presented with prominent speech and oral motor dysfunction, implicating SCN3A in prenatal development of human cortical language areas. The development of this disorder parallels SCN3A expression, which we observed to be highest early in fetal cortical development in progenitor cells of the outer subventricular zone and cortical plate neurons and decreased postnatally, when SCN1A (Na1.1) expression increased. Disrupted cerebral cortical folding and neuronal migratio...
European Journal of Human Genetics
Eur J Paediatr Neurol, 1999
Rationale: Periventricular grey matter heterotopia is a neuronal migration disorder often associa... more Rationale: Periventricular grey matter heterotopia is a neuronal migration disorder often associated with epilepsy. Most cases are of the nodular type (PNH). A Linear variant (PLH) was rarely acknowledged and described in only 4 unrelated patients; one case with complex structural anomalies (Epilepsia, 00;41:352), and three with mild gyral abnormalities but severe intellectual disabilities (Brain, 06;129:1892). We report a series of three new unrelated patients with PLH and epilepsy. Methods: In addition to the description of PLH, we looked for the presence of anomalies in the cerebral cortex, midline structures, hippocampal formation and posterior fossa. We correlated the findings with clinical, EEG and functional imaging results. Genetic tests were performed in all patients. Results: Patient1 – A 42 yo female (French-Canadian and Lebanese ancestry) without pre/perinatal antecedents, risk factors or family history of neurological disorder. Seizures started at 16 yo and semiology wa...
Clinical Neurophysiology, 2014
New England Journal of Medicine, 2014