Recommendations on the assessment tools for clinical use in HSP patients.

NIAID Data Ecosystem80

Table_2_A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism.docx

遗传性痉挛性截瘫

突变机制

IntroductionHereditary spastic paraplegias (HSPs) are genetic neurodegenerative diseases. The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type

NIAID Data Ecosystem50

FreeSurfer measurements.

神经影像

遗传性痉挛性截瘫

Comparison of cortical thickness measurements for motor regions between controls and patients with SPG4-HSP. (DOCX)

NIAID Data Ecosystem20

SPAST variant that causes hereditary spastic paraplegia

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SPAST variant that causes hereditary spastic paraplegia

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