The Experts below are selected from a list of 276 Experts worldwide ranked by ideXlab platform
Davide Pareyson - One of the best experts on this subject based on the ideXlab platform.
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Lower limb Areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu.
Journal of the neurological sciences, 2010Co-Authors: Ettore Salsano, Roberto Fancellu, Giuseppe Di Fede, Claudia Ciano, Vidmer Scaioli, Lorenzo Nanetti, Letterio Salvatore Politi, Fabrizio Tagliavini, Caterina Mariotti, Davide PareysonAbstract:Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including Areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with Areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich's ataxia and other forms of ataxia with Areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb Areflexia. Hence, in subjects with walking difficulties, the presence of lower limb Areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease.
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Lower limb Areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu
Journal of the Neurological Sciences, 2010Co-Authors: Ettore Salsano, Roberto Fancellu, Giuseppe Di Fede, Claudia Ciano, Vidmer Scaioli, Lorenzo Nanetti, Letterio Salvatore Politi, Fabrizio Tagliavini, Caterina Mariotti, Davide PareysonAbstract:Gerstmann-Straussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including Areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with Areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich's ataxia and other forms of ataxia with Areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb Areflexia. Hence, in subjects with walking difficulties, the presence of lower limb Areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease.
Bryan Lynch - One of the best experts on this subject based on the ideXlab platform.
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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
Neuromuscular disorders : NMD, 2019Co-Authors: Niamh Shaughnessy, Eva B. Forman, Declan O'rourke, Sally Ann Lynch, Bryan LynchAbstract:Abstract X-linked infantile spinal muscular atrophy (SMAX2), OMIM 301830 , is a rare, severe form of spinal muscular atrophy, caused by variants in the Ubiquitin like modifier-activating enzyme 1 (UBA1) gene. Clinical features reported to date include marked hypotonia, Areflexia, arthrogryposis, contractures, myopathic facies and tongue fibrillations. Previous reports have included a history of contractures. We report a male patient presenting following a normal pregnancy with typical symptoms of X- linked infantile spinal muscular atrophy including hypotonia, weakness, Areflexia and respiratory insufficiency, however contractures were absent. There was a significant family history of neuromuscular disease on the maternal side, with several male relatives all dying before the age of six months. Creatine Kinase was mildly elevated, MRI Brain was normal and neurophysiological testing revealed a diffuse motor neuronopathy. Genetic testing for SMN1 gene was normal. UBA1 sequencing revealed a maternally inherited hemizygous familial variant [c.1681G>A p. (Asp561Asn)], which has not been previously reported.
Zakia A Abdelhamed - One of the best experts on this subject based on the ideXlab platform.
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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, Areflexia, respiratory distress and dysphagia (EMARDD)
Nature Genetics, 2011Co-Authors: Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne Van Riesen, Joanne E Morgan, Grace MarkhamAbstract:Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, Areflexia, respiratory distress and dysphagia.
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mutations in megf10 a regulator of satellite cell myogenesis cause early onset myopathy Areflexia respiratory distress and dysphagia emardd
Nature Genetics, 2011Co-Authors: Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne Van Riesen, J. MorganAbstract:Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, Areflexia, respiratory distress and dysphagia.
Clare V Logan - One of the best experts on this subject based on the ideXlab platform.
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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, Areflexia, respiratory distress and dysphagia (EMARDD)
Nature Genetics, 2011Co-Authors: Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne Van Riesen, Joanne E Morgan, Grace MarkhamAbstract:Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, Areflexia, respiratory distress and dysphagia.
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mutations in megf10 a regulator of satellite cell myogenesis cause early onset myopathy Areflexia respiratory distress and dysphagia emardd
Nature Genetics, 2011Co-Authors: Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne Van Riesen, J. MorganAbstract:Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, Areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, Areflexia, respiratory distress and dysphagia.
Anna Kostera-pruszczyk - One of the best experts on this subject based on the ideXlab platform.
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X-linked spinal muscular atrophy caused by de novo c.1731C>T substitution in the UBA1 gene
Bone Abstracts, 2015Co-Authors: Maria Jędrzejowska, Anna Kostera-pruszczyk, Elżbieta Jakubowska-pietkiewiczAbstract:Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, Areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy. Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound muscle weakness, Areflexia, multiple contractures, mild skeletal abnormalities and cryptorchidism. In the first days of the patient’s life, fractures of the right femur and right humerus were found; however, calcium–phosphate metabolism and densitometric examination were normal. Molecular analysis revealed a de novo c.1731C>T substitution in the UBA1 gene, which was localized in exon 15, the specific hot spot for mutation. © 2015 Elsevier B.V. All rights reserved.
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X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
Neuromuscular disorders : NMD, 2015Co-Authors: Maria Jędrzejowska, Elżbieta Jakubowska-pietkiewicz, Anna Kostera-pruszczykAbstract:Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, Areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy. Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound muscle weakness, Areflexia, multiple contractures, mild skeletal abnormalities and cryptorchidism. In the first days of the patient's life, fractures of the right femur and right humerus were found; however, calcium-phosphate metabolism and densitometric examination were normal. Molecular analysis revealed a de novo c.1731C>T substitution in the UBA1 gene, which was localized in exon 15, the specific hot spot for mutation.