spastic paraplegia, autosomal recessive, type 21

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spastic paraplegia, autosomal recessive, type 21

A complex autosomal recessive form (OMIM:248900) of spastic paraplegia, a neurodegenerative spinal cord disease characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs; initial symptoms include difficulty with balance, weakness and stiffness in legs, muscle spasms, and dragging of toes when walking. Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 21 is associated with dementia and other CNS changes, usually developing in early adulthood. It is slowly progressive: cerebellar and extrapyramidal signs characterise advanced disease.

Pathology
Thin corpus callosum and white-matter defects.

Molecular pathology
Caused by defects of SPG21, which encodes a protein thought to downregulate CD4-dependent T-cell activation.
References in periodicals archive ?
In contrast, CD40, SPG21, and reticulum aminopeptidase-1 (ARTS-1) are the only three factors found to be upregulated in nonlesional scalp areas, being part of cytochrome P450 and xenobiotic NF-kB pathways.
Como ejemplo de esas asociaciones recien descubiertas citan los autores la interaccion entre RTN4, un inhibidor del crecimiento neuritico, y SPG21, una proteina asociada a la paraplejia espatica.