Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201268
Type: Artigo de periódico
Title: Clinical Features And Management Of Hereditary Spastic Paraplegia.
Author: Faber, Ingrid
Servelhere, Katiane R
Martinez, Alberto R M
D'Abreu, Anelyssa
Lopes-Cendes, Iscia
França-Jr, Marcondes C
Abstract: Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.
Subject: Adult
Genes, Dominant
Genes, Recessive
Genetic Diseases, X-linked
Humans
Magnetic Resonance Imaging
Mutation
Spastic Paraplegia, Hereditary
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/24676440
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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