Clinical features and management of hereditary spastic paraplegia

Arquivos de Neuro-Psiquiatria

Ingrid Faber¹  Katiane R. Servelhere¹  Alberto R. M. Martinez¹  Anelyssa D?abreu¹  Iscia Lopes-cendes¹  Marcondes C. França Jr¹ 

关键词: hereditary spastic paraplegia;    spastic paraplegia;    muscle spasticity;    genetics;    mutation;    paraplegia espástica hereditária;    paraplegia espástica;    espasticidade muscular;    genética;    mutação;   

DOI  :  10.1590/0004-282X20130248

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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