The Experts below are selected from a list of 111 Experts worldwide ranked by ideXlab platform
Helga Cristina Almeida Da Silva - One of the best experts on this subject based on the ideXlab platform.
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a mutation in the vesicle trafficking protein vapb causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis
American Journal of Human Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, Antonio Richiericosta, Susan Middleton, Duilio Cascio, Joao Ricardo Mendes De Oliveira, Thomas H Gillingwater, Jeanette WebbAbstract:Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Progressive Bulbar Palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND (atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking.
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a novel locus for late onset amyotrophic lateral sclerosis motor neurone disease variant at 20q13
Journal of Medical Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, J P Oliveira, Mariz Vainzof, Mayana ZatzAbstract:Motor neurone disease includes a heterogeneous group of disorders with motor neurone involvement, such as amyotrophic lateral sclerosis, Progressive muscular atrophy, Progressive Bulbar Palsy, and primary lateral sclerosis. Amyotrophic lateral sclerosis is the most common adult onset form of motor neurone disease and involves the lower and upper motor neurones. It is characterised by Progressive muscle weakness and atrophy, with fasciculations associated with hyperreflexia and spasticity. One of the proposed mechanisms for amyotrophic lateral sclerosis is degeneration of the motor neurone because of abnormal levels of toxic products that accumulate in the cell. Death usually occurs by respiratory failure about 2–3 years after the first symptoms.1 About 10% of cases are familial amyotrophic lateral sclerosis, and several loci have been associated with this disease. To date, the only two genes identified have been the zinc–copper superoxide dismutase 1 ( SOD1 ) gene, which is located on chromosome 21 (ALS1, MIM105400), and the Alsin gene, which is located at 2q33 (ALS2, MIM 205100).2–4 Autosomal dominant forms of amyotrophic lateral sclerosis also have been linked to 18q21 (ALS3, MIM 606640), 9q34 (ALS4, MIM 602433), and 15q15.1–q21.1 (ALS5, MIM 602099) and amyotrophic lateral sclerosis–frontotemporal dementia (MIM 105550) to 9q21-22.5–9 Moreover, mutations in Dynein are associated with motor neurone degeneration and defects in retrograde transport. This gene acts in the cellular division, trafficking, and transport of several proteins, such as SOD1 .10,11 More recently, two new loci have been associated with amyotrophic lateral sclerosis. One of them, reported by three independent groups, is on chromosome 16; the other is at 20p.12–14 We report a Caucasian Brazilian family with 26 members distributed in three generations affected by a late onset autosomal dominant motor neurone disease. Clinical and neurological examination of 11 living members was compatible with the diagnosis …
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A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
'University of Chicago Press', 2004Co-Authors: Nishimura A. L., Helga Cristina Almeida Da Silva, Joao Ricardo Mendes De Oliveira, Mitne-neto Miguel, Richieri-costa Antonio, Middleton S., Cascio D., Kok F., Gillingwater T., Webb J.Abstract:Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Progressive Bulbar Palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND ( atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking.Univ São Paulo, Inst Biociencias, Dept Biol, Human Genome Res Ctr, São Paulo, BrazilUniversidade Federal de São Paulo, Sch Med, Anesthesiol Pain & Intens Care Dept, São Paulo, BrazilUniv São Paulo, Hosp Rehabil Craniofacial Anomalies, Genet Serv, Bauru, BrazilUniv Edinburgh, Dept Neurosci, Edinburgh, Midlothian, ScotlandUniv Calif Los Angeles, Dept Energy, Inst Mol Biol, Inst Genom & Proteom, Los Angeles, CA USAUniversidade Federal de São Paulo, Sch Med, Anesthesiol Pain & Intens Care Dept, São Paulo, BrazilWeb of Scienc
Agnes L Nishimura - One of the best experts on this subject based on the ideXlab platform.
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a mutation in the vesicle trafficking protein vapb causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis
American Journal of Human Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, Antonio Richiericosta, Susan Middleton, Duilio Cascio, Joao Ricardo Mendes De Oliveira, Thomas H Gillingwater, Jeanette WebbAbstract:Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Progressive Bulbar Palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND (atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking.
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a novel locus for late onset amyotrophic lateral sclerosis motor neurone disease variant at 20q13
Journal of Medical Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, J P Oliveira, Mariz Vainzof, Mayana ZatzAbstract:Motor neurone disease includes a heterogeneous group of disorders with motor neurone involvement, such as amyotrophic lateral sclerosis, Progressive muscular atrophy, Progressive Bulbar Palsy, and primary lateral sclerosis. Amyotrophic lateral sclerosis is the most common adult onset form of motor neurone disease and involves the lower and upper motor neurones. It is characterised by Progressive muscle weakness and atrophy, with fasciculations associated with hyperreflexia and spasticity. One of the proposed mechanisms for amyotrophic lateral sclerosis is degeneration of the motor neurone because of abnormal levels of toxic products that accumulate in the cell. Death usually occurs by respiratory failure about 2–3 years after the first symptoms.1 About 10% of cases are familial amyotrophic lateral sclerosis, and several loci have been associated with this disease. To date, the only two genes identified have been the zinc–copper superoxide dismutase 1 ( SOD1 ) gene, which is located on chromosome 21 (ALS1, MIM105400), and the Alsin gene, which is located at 2q33 (ALS2, MIM 205100).2–4 Autosomal dominant forms of amyotrophic lateral sclerosis also have been linked to 18q21 (ALS3, MIM 606640), 9q34 (ALS4, MIM 602433), and 15q15.1–q21.1 (ALS5, MIM 602099) and amyotrophic lateral sclerosis–frontotemporal dementia (MIM 105550) to 9q21-22.5–9 Moreover, mutations in Dynein are associated with motor neurone degeneration and defects in retrograde transport. This gene acts in the cellular division, trafficking, and transport of several proteins, such as SOD1 .10,11 More recently, two new loci have been associated with amyotrophic lateral sclerosis. One of them, reported by three independent groups, is on chromosome 16; the other is at 20p.12–14 We report a Caucasian Brazilian family with 26 members distributed in three generations affected by a late onset autosomal dominant motor neurone disease. Clinical and neurological examination of 11 living members was compatible with the diagnosis …
Carlos De Sousa - One of the best experts on this subject based on the ideXlab platform.
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brown vialetto van laere syndrome a riboflavin responsive neuronopathy of infancy with singular features
European Journal of Paediatric Neurology, 2014Co-Authors: Carlotta Spagnoli, Matthew Pitt, Shamima Rahman, Carlos De SousaAbstract:We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, Progressive Bulbar Palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern. Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.
Shamima Rahman - One of the best experts on this subject based on the ideXlab platform.
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brown vialetto van laere syndrome a riboflavin responsive neuronopathy of infancy with singular features
European Journal of Paediatric Neurology, 2014Co-Authors: Carlotta Spagnoli, Matthew Pitt, Shamima Rahman, Carlos De SousaAbstract:We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, Progressive Bulbar Palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern. Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.
Miguel Mitneneto - One of the best experts on this subject based on the ideXlab platform.
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a mutation in the vesicle trafficking protein vapb causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis
American Journal of Human Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, Antonio Richiericosta, Susan Middleton, Duilio Cascio, Joao Ricardo Mendes De Oliveira, Thomas H Gillingwater, Jeanette WebbAbstract:Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Progressive Bulbar Palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND (atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking.
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a novel locus for late onset amyotrophic lateral sclerosis motor neurone disease variant at 20q13
Journal of Medical Genetics, 2004Co-Authors: Agnes L Nishimura, Miguel Mitneneto, Helga Cristina Almeida Da Silva, J P Oliveira, Mariz Vainzof, Mayana ZatzAbstract:Motor neurone disease includes a heterogeneous group of disorders with motor neurone involvement, such as amyotrophic lateral sclerosis, Progressive muscular atrophy, Progressive Bulbar Palsy, and primary lateral sclerosis. Amyotrophic lateral sclerosis is the most common adult onset form of motor neurone disease and involves the lower and upper motor neurones. It is characterised by Progressive muscle weakness and atrophy, with fasciculations associated with hyperreflexia and spasticity. One of the proposed mechanisms for amyotrophic lateral sclerosis is degeneration of the motor neurone because of abnormal levels of toxic products that accumulate in the cell. Death usually occurs by respiratory failure about 2–3 years after the first symptoms.1 About 10% of cases are familial amyotrophic lateral sclerosis, and several loci have been associated with this disease. To date, the only two genes identified have been the zinc–copper superoxide dismutase 1 ( SOD1 ) gene, which is located on chromosome 21 (ALS1, MIM105400), and the Alsin gene, which is located at 2q33 (ALS2, MIM 205100).2–4 Autosomal dominant forms of amyotrophic lateral sclerosis also have been linked to 18q21 (ALS3, MIM 606640), 9q34 (ALS4, MIM 602433), and 15q15.1–q21.1 (ALS5, MIM 602099) and amyotrophic lateral sclerosis–frontotemporal dementia (MIM 105550) to 9q21-22.5–9 Moreover, mutations in Dynein are associated with motor neurone degeneration and defects in retrograde transport. This gene acts in the cellular division, trafficking, and transport of several proteins, such as SOD1 .10,11 More recently, two new loci have been associated with amyotrophic lateral sclerosis. One of them, reported by three independent groups, is on chromosome 16; the other is at 20p.12–14 We report a Caucasian Brazilian family with 26 members distributed in three generations affected by a late onset autosomal dominant motor neurone disease. Clinical and neurological examination of 11 living members was compatible with the diagnosis …
