Navegando por Palavras-chave "Neurogenetics"

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    Distal myopathy due to BICD2 mutations
    (Elsevier Science Bv, 2018) Souza, P. V. S. [UNIFESP]; Pinto, W. B. V. R. [UNIFESP]; Aivazoglou, Lais Uyeda [UNIFESP]; Cardoso, Fabian Nassar [UNIFESP]; Aihara, Andre Yui[UNIFESP]; Yamada, Andre Fukunishi [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]|Fernandes, A. R. C. [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
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    Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
    (Springer, 2017) Sgobbi de Souza, Paulo Victor [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; de Rezende Batistella, Gabriel Novaes [UNIFESP]; Bortholin, Thiago [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
    Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup
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    Motor neuron disease in inherited neurometabolic disorders
    (Masson Editeur, 2018) Souza, Paulo Victor Sgobbi de [UNIFESP]; Bortholin, T. [UNIFESP]; Naylor, F. George Monteiro [UNIFESP]; Chieia, Marco Antonio Troccoli [UNIFESP]; Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]
    Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases. The present review discusses the most important neurometabolic disorders presenting with motor neuron (lower and/or upper) dysfunction as the key clinical and neuropathological feature. (C) 2017 Elsevier Masson SAS. All rights reserved.
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    New genetic causes for complex hereditary spastic paraplegia
    (Elsevier Science Bv, 2017) Sgobbi de Souza, Paulo Victor [UNIFESP]; Bortholin, Thiago [UNIFESP]; Dias, Renan Braido [UNIFESP]; Troccoli Chieia, Marco Antonio [UNIFESP]; Burlin, Stenio [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
    Introduction: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far. We performed review of medical records from twenty-one patients from seventeen Brazilian families with complex phenotype of HSP. All cases have previously negative mutations in SPG11/KIAA1840 and SPG7 gene and were evaluated by whole-exome sequencing. An extensive description of systemic and neurological signs has been described. Results: Whole-exome sequencing was unremarkable in eight patients and established a definite genetic diagnosis in thirteen patients of twelve non-related families. Mutations were found in genes previously implicated in other neurodegenerative disorders such as Amyotrophic Lateral Sclerosis, Hereditary Neuropathy, Spastic Ataxias, Neurodegeneration with Brain Iron Accumulation, Glycogen Metabolism, Congenital Lipodystrophy and aminoacyl-tRNA synthetases disorders. Conclusions: We report thirteen new genetically-proven cases of complex HSP, expanding the clinical spectrum of presentations of HSP, providing new pathophysiological mechanisms and disclosing new potential therapeutic targets. (C) 2017 Elsevier B.V. All rights reserved.