The Experts below are selected from a list of 9 Experts worldwide ranked by ideXlab platform
Diana Rodriguez - One of the best experts on this subject based on the ideXlab platform.
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pp12 10 2930 expansion of the spectrum of tubb4a mutations related phenotype in hypomyelinating leukodystophy with Atrophy of basal ganglia and Cerebellum
European Journal of Paediatric Neurology, 2015Co-Authors: F Renaldo, H Fettah, Simon Samaan, M Elmaleh, Helene Maurey, Caroline Sevin, C Rougeot, Des V Portes, Severine Drunat, Diana RodriguezAbstract:Objective Hypomyelinating leukodystophy (HDL) with Atrophy of basal ganglia (BG) and Cerebellum (H-ABC or HDL6) has recently been associated with de Novo mutations of tubulin beta 4 (TUBB4A), a gene known to be involved in a dominant form of dystonia (DYT4). We propose to illustrate the large clinicoradiological spectrum of TUBB4A-gene-related mutations. Methods We report on 4 patients. Results Patient 1 presented with a classic form: nytagmus at 3 months of age, no head control; spastic tetraparesis, choreo-athetosic movements and axial dystonia were obvious before the age of 2 years. MRI showed hypomyelination with progressive BG Atrophy. Patient 2 and 3 presented with predominant motor dysfunction which manifested as delayed acquisition of milestones and progressive severe spastic quadriplegia. Communication and receptive language were relatively preserved. Extrapyramidal symptomatology and cognitive dysfunction appeared after several years of evolution. MRI dysplayed hypomyelination, corpus callosum and cerebellar Atrophy in patients 2 and 3, associated with cortical and BG Atrophy in patient 3. Patient 4 acquired independent but unsteady walking at 12 months of age. He could run and read. He was explored for the first time at around 2 years for nystagmus and delayed acquisition of language. Motor functions deteriorated after a limb fracture (7y) in a context of very slowly progressive cerebellar syndrome, which had been evident at 3 years of age. Independent ambulation was lost at 8. MRI at 10 years showed hypomyelination and a slight Atrophy of the striatum. All patients have diferent de Novo TUBB4A mutations. 2 are known, 2 are reported for the first time (patients 2, 4). Conclusion These observations illustrate a phenotypic continuum linked to TUBB4A mutations, as reported in the others HDL. This diagnosis should be discussed when HDL is associated with BG and/or Cerebellum Atrophy in a patient presenting with spasticity and/or progressive cerebellar symptoms.
Jesús Modesto Suárez Rodríguez - One of the best experts on this subject based on the ideXlab platform.
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Cerebellum Atrophy and Development of a Peripheral Dysgraphia: A Paediatric Case
Cerebellum (London England), 2010Co-Authors: Maria Concepción Fournier Del Castillo, Maria Jesus Maldonado Belmonte, Maria Luz Ruiz-falcó Rojas, Miguel Ángel López Pino, Jordi Bernabeu Verdú, Jesús Modesto Suárez RodríguezAbstract:Two types of dysgraphia may be distinguished: the core ones, which reflect damage to the linguistic orthographic routes, and the peripheral ones, produced by alterations in the selection or execution of graphic motor patterns. We report the case of an 8-year-old male child, who consulted specialists due to difficulties in writing, with a background of acute cerebellar swelling at the age of 4. The writing pattern he has developed shows characteristic errors of a peripheral dysgraphia. The magnetic resonance imaging taken during the neuropsychological evaluation shows a mild Atrophy in the Cerebellum cortex. Our case is similar to previous studies of adult patients and equally supports the fact that the functional network responsible for the peripheral control of writing abilities may include the Cerebellum, which not only maintains previously learnt writing processes but is also involved in the evolutionary acquisition of this ability.
F Renaldo - One of the best experts on this subject based on the ideXlab platform.
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pp12 10 2930 expansion of the spectrum of tubb4a mutations related phenotype in hypomyelinating leukodystophy with Atrophy of basal ganglia and Cerebellum
European Journal of Paediatric Neurology, 2015Co-Authors: F Renaldo, H Fettah, Simon Samaan, M Elmaleh, Helene Maurey, Caroline Sevin, C Rougeot, Des V Portes, Severine Drunat, Diana RodriguezAbstract:Objective Hypomyelinating leukodystophy (HDL) with Atrophy of basal ganglia (BG) and Cerebellum (H-ABC or HDL6) has recently been associated with de Novo mutations of tubulin beta 4 (TUBB4A), a gene known to be involved in a dominant form of dystonia (DYT4). We propose to illustrate the large clinicoradiological spectrum of TUBB4A-gene-related mutations. Methods We report on 4 patients. Results Patient 1 presented with a classic form: nytagmus at 3 months of age, no head control; spastic tetraparesis, choreo-athetosic movements and axial dystonia were obvious before the age of 2 years. MRI showed hypomyelination with progressive BG Atrophy. Patient 2 and 3 presented with predominant motor dysfunction which manifested as delayed acquisition of milestones and progressive severe spastic quadriplegia. Communication and receptive language were relatively preserved. Extrapyramidal symptomatology and cognitive dysfunction appeared after several years of evolution. MRI dysplayed hypomyelination, corpus callosum and cerebellar Atrophy in patients 2 and 3, associated with cortical and BG Atrophy in patient 3. Patient 4 acquired independent but unsteady walking at 12 months of age. He could run and read. He was explored for the first time at around 2 years for nystagmus and delayed acquisition of language. Motor functions deteriorated after a limb fracture (7y) in a context of very slowly progressive cerebellar syndrome, which had been evident at 3 years of age. Independent ambulation was lost at 8. MRI at 10 years showed hypomyelination and a slight Atrophy of the striatum. All patients have diferent de Novo TUBB4A mutations. 2 are known, 2 are reported for the first time (patients 2, 4). Conclusion These observations illustrate a phenotypic continuum linked to TUBB4A mutations, as reported in the others HDL. This diagnosis should be discussed when HDL is associated with BG and/or Cerebellum Atrophy in a patient presenting with spasticity and/or progressive cerebellar symptoms.
Maria Concepción Fournier Del Castillo - One of the best experts on this subject based on the ideXlab platform.
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Cerebellum Atrophy and Development of a Peripheral Dysgraphia: A Paediatric Case
Cerebellum (London England), 2010Co-Authors: Maria Concepción Fournier Del Castillo, Maria Jesus Maldonado Belmonte, Maria Luz Ruiz-falcó Rojas, Miguel Ángel López Pino, Jordi Bernabeu Verdú, Jesús Modesto Suárez RodríguezAbstract:Two types of dysgraphia may be distinguished: the core ones, which reflect damage to the linguistic orthographic routes, and the peripheral ones, produced by alterations in the selection or execution of graphic motor patterns. We report the case of an 8-year-old male child, who consulted specialists due to difficulties in writing, with a background of acute cerebellar swelling at the age of 4. The writing pattern he has developed shows characteristic errors of a peripheral dysgraphia. The magnetic resonance imaging taken during the neuropsychological evaluation shows a mild Atrophy in the Cerebellum cortex. Our case is similar to previous studies of adult patients and equally supports the fact that the functional network responsible for the peripheral control of writing abilities may include the Cerebellum, which not only maintains previously learnt writing processes but is also involved in the evolutionary acquisition of this ability.
Severine Drunat - One of the best experts on this subject based on the ideXlab platform.
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pp12 10 2930 expansion of the spectrum of tubb4a mutations related phenotype in hypomyelinating leukodystophy with Atrophy of basal ganglia and Cerebellum
European Journal of Paediatric Neurology, 2015Co-Authors: F Renaldo, H Fettah, Simon Samaan, M Elmaleh, Helene Maurey, Caroline Sevin, C Rougeot, Des V Portes, Severine Drunat, Diana RodriguezAbstract:Objective Hypomyelinating leukodystophy (HDL) with Atrophy of basal ganglia (BG) and Cerebellum (H-ABC or HDL6) has recently been associated with de Novo mutations of tubulin beta 4 (TUBB4A), a gene known to be involved in a dominant form of dystonia (DYT4). We propose to illustrate the large clinicoradiological spectrum of TUBB4A-gene-related mutations. Methods We report on 4 patients. Results Patient 1 presented with a classic form: nytagmus at 3 months of age, no head control; spastic tetraparesis, choreo-athetosic movements and axial dystonia were obvious before the age of 2 years. MRI showed hypomyelination with progressive BG Atrophy. Patient 2 and 3 presented with predominant motor dysfunction which manifested as delayed acquisition of milestones and progressive severe spastic quadriplegia. Communication and receptive language were relatively preserved. Extrapyramidal symptomatology and cognitive dysfunction appeared after several years of evolution. MRI dysplayed hypomyelination, corpus callosum and cerebellar Atrophy in patients 2 and 3, associated with cortical and BG Atrophy in patient 3. Patient 4 acquired independent but unsteady walking at 12 months of age. He could run and read. He was explored for the first time at around 2 years for nystagmus and delayed acquisition of language. Motor functions deteriorated after a limb fracture (7y) in a context of very slowly progressive cerebellar syndrome, which had been evident at 3 years of age. Independent ambulation was lost at 8. MRI at 10 years showed hypomyelination and a slight Atrophy of the striatum. All patients have diferent de Novo TUBB4A mutations. 2 are known, 2 are reported for the first time (patients 2, 4). Conclusion These observations illustrate a phenotypic continuum linked to TUBB4A mutations, as reported in the others HDL. This diagnosis should be discussed when HDL is associated with BG and/or Cerebellum Atrophy in a patient presenting with spasticity and/or progressive cerebellar symptoms.