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Publicação
Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis
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Orientador(es)
Resumo(s)
SPG11 gene is localized on chromosome 15q21 and encodes spatacsin. Mutations of this gene are typically associated with autosomal recessive hereditary spastic paraplegia (HSP)-11, causing progressive spasticity of the lower limbs. This type of HSP is usually associated with other manifestations, such as thickness reduction of corpus callosum, cognitive impairment, peripheral neuropathy, pseudobulbar involvement. Nevertheless, SPG11 pathogenic variants are also associated with a spectrum of clinical manifestations, including juvenile amyotrophic lateral sclerosis (ALS), hereditary motor sensory neuropathy (Charcot–Marie–Tooth disease type 2X), and multiple sclerosis mimics.
Descrição
© The Author(s) under exclusive licence to Belgian Neurological Society 2022.
Palavras-chave
Contexto Educativo
Citação
Acta Neurol Belg. 2023 Aug;123(4):1627-1629
Editora
Springer Nature