Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.

Background: Primary lateral sclerosis (PLS) is considered a rare variant of motor neuron disease (MND) characterized by selective upper motor neuron dysfunction leading to limb weakness, spasticity, and even bulbar symptoms. Previous studies have demonstrated that mutations in ALSIN, spastic paraplegia 7 (SPG7), TBK1, ALS2, ERLIN2, and FIG4 are responsible for PLS. Most of them occurred in childhood to young-adult onset patients.

Effect of blood pressure variability on early neurological deterioration in single small subcortical infarction with parental arterial disease.

Background And Purpose: Early neurological deterioration (END) is not uncommon in acute single small subcortical infarct (SSSI), especially in those with parental arterial disease (PAD). The purpose of this study was to elucidate the effect of BP variability on the development of END as well as functional outcome at 90 days in SSSI and to determine whether the effect is linked to the status of parent artery.

Methods: Consecutive patients with acute SSSI were prospectively recruited from the First People's Hospital of Yangzhou between Aug 2013 and Jul 2016.

Lesion patterns of single small subcortical infarct and its association with early neurological deterioration.

Early neurological deterioration (END), happening in the acute phase of infarct, is not rare in patients with single small subcortical infarction (SSSI). The aim of this study was to investigate the lesion patterns of SSSI and its association with END as well as functional outcome at 90 days after onset. 227 patients with acute SSSI in the perforator territory of MCA were prospectively recruited from Yangzhou No.