Prognostic factors for functional outcome and survival after reirradiation for in‐field recurrences of metastatic spinal cord compression

Abstract

Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable epilepsies that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1, leads to failure of glucose transport across the blood–brain barrier and inadequate glucose for brain metabolism. GLUT1 deficiency was first associated with an encephalopathy and more recently found in rare dominant families with epilepsy and paroxysmal exertional dyskinesia (PED). Five hundred four probands with IGEs and 470 controls underwent SLC2A1 sequencing. Glucose transport was assayed following expression of SLC2A1 variants in Xenopus oocytes. All available relatives were phenotyped, and SLC2A1 was sequenced. Results: Functionally validated mutations in SLC2A1 were present in 7 of 504 (1.4%) probands and 0 of 470 controls. PED, undiagnosed prior to study, occurred in 1 proband and 3 of 13 relatives with mutations. The IGEs in probands and relatives were indistinguishable from typical IGE. Three cases (0.6%) had mutations of large functional effect and showed autosomal dominant inheritance or were de novo. Four (0.8%) cases had a subtle functional effect; 2 showed possible dominant inheritance, and 2 did not. These alleles leading to subtle functional impairment may contribute to complex, polygenic inheritance of IGE. Interpretation: SLC2A1 mutations contribute to approximately 1% of IGE both as a dominant gene and as a susceptibility allele in complex inheritance. Diagnosis of GLUT1 deficiency has important treatment (ketogenic diet) and genetic counseling implications. The mechanism of restricted glucose delivery differs from the current focus on IGEs as ion channel disorders. ANN NEUROL 2012;72:807–815

Postoperative Survival and Ambulatory Outcome in Metastatic Spinal Tumors : Prognostic Factor Analysis

“…Most studies revealed that ambulatory function at time of diagnosis is the most important predictor for the postoperative ambulatory outcome 2,14,16,17,20,24) . The most important prognostic indicator for the prediction of ambulatory outcome is patients' pretreatment ambulatory status.…”

Intramedullary spinal cord metastases: an increasingly common diagnosis

“…Radiation is usually considered for patients without neurological symptoms and can be well tolerated if the correct indications are made. 8,31,38,44,47 On the other hand, Lee et al, 26 in a series of 11 patients undergoing radiotherapy and 1 patient without treatment, and Conill et al 4 reporting on 6 cases treated with radiotherapy combined with steroids, showed that after a short period of clinical improvement, a rather fast decline occurred in neurological functions, sometimes within only a few days. Thus, one could assume that unless radiation leads to an expected rapid shrinking of the tumor, surgery should be considered even when patients are oligosymptomatic.…”

Retrospective study of rehabilitation outcomes following spinal cord injury due to tumour

“…Factors such as the patient's performance status and visceral metastases can be useful when attempting to prognosticate functional outcome for patients. 23 Knowledge of the prognosis is crucial during the assessment process, as those not appropriate for a specialist SCI rehabilitation programme can be redirected to more appropriate settings. This needs to be tempered, however, with the limited alternative options besides palliative care.…”