Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of disorders characterized by lower extremity spasticity and weakness. Recently, the first de novo mutations in KIF1A were identified in patients with an early-onset severe form of complicated hereditary spastic paraplegia. We report two additional patients with novel de novo mutations in KIF1A, hereby expanding...

Acute transverse myelitis is a rare clinical manifestation of Coxsackie virus infection which cause acute and progressive debilitating illness associated with loss of spinal cord function in the affected patients. A 62 year-old female developed symptoms of rapidly progressive paraplegia with sensory loss. On spinal MRI, T2 sagittal image showed increased signal intensity with cord swelling at T...

A 50-year-old man presented to the emergency department (ED) with acute, bilateral lower extremity weakness and loss of sensation, as well as absent pulses bilaterally. Computed tomography angiography showed complete occlusion of the aorta below the inferior mesenteric artery, extending to the iliac bifurcations. Echocardiographic findings showed severe systolic dysfunction (ejection fraction o...

This report describes a case of aortic dissection in a 32 year old man who presented with mild central chest pain and transient paraplegia. Complete recovery of paraplegia in aortic dissection has previously been reported but this is the first case report in which full resolution of the paraplegia occurred within half an hour of presentation. The case emphasises the importance of careful histor...

Abstract Background To explore the therapeutic effect of early surgical intervention for active thoracic spinal tuberculosis (TB) patients with paraparesis and paraplegia. Methods Data on 118 TB paraplegia who had undergone surgery at an stage (within three weeks paraplegia) from January 2008 to December 2014 were retrospectively analyzed. The operation duration, blood loss, perioperative compl...

A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary...

Fact: All particulate corticosteroid preparations have been implicated in rare cases of paraplegia, whereas no definitive evidence exists of paraplegia resulting from injection of non-particulate steroids. Studies directly comparing the effectiveness of particulate and non-particulate steroids largely show no differences between the two, with respect to relief of pain, restoration of function, ...

objectives: wheelchairs are the prime mobility aid of persons with spinal cord injuries. manual wheelchair propulsion puts a lot of demand on the cardiopulmonary as well as the skeletal system. the main purpose of the study was to compare the effects of both arm ergometry training and progressive resistance exercise training of upper limbs on resting heart rate and distance covered during wheel...

Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known. Therefore, our objective is to identify regions of the central nervous system damaged in patients with SPG4-HSP using a multi-modal neuroimaging approach. In addition, we aimed to identify possible clinical correlate...