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Background:The pathophysiology of Tourette syndrome (TS) is thought to involve disturbances in corticostriato-thalamo-cortical circuitry. The morphological characteristics of the cortical and associated white matter portions of these circuits have not been previously examined in TS subjects.

Persons with initially stable locked-in syndrome can have prolonged survival, can live in the community if there is enough support, and have some measure of quality of life.

Study Type – Therapy (case series) Level of Evidence 4 OBJECTIVE To examine the presentation, management and outcomes of patients with renal angiomyolipoma (AML) over a period of 10 years, at St George’s Hospital, London, UK. PATIENTS AND METHODS We assessed retrospectively 102 patients (median follow‐up 4 years) at our centre; 70 had tuberous sclerosis complex (TSC; median tumour size 3.5 cm) and the other 32 were sporadic (median tumour size 1.2 cm). Data were gathered from several sources, including radiology and clinical genetics databases. The 77 patients with stable disease were followed up with surveillance imaging, and 25 received interventions, some more than one. Indications for intervention included spontaneous life‐threatening haemorrhage, large AML (10–20 cm), pain and visceral compressive symptoms. RESULTS Selective arterial embolization (SAE) was performed in 19 patients; 10 received operative management and four had a radiofrequency ablation (RFA). SAE was effective in controlling haemorrhage from AMLs in the acute setting (six) but some patients required further intervention (four) and there was a significant complication rate. The reduction in tumour volume was only modest (28%). No complications occurred after surgery (median follow‐up 5.5 years) or RFA (median follow‐up 9 months). One patient was entered into a trial and treated with sirolimus (rapamycin). CONCLUSIONS The management of AML is both complex and challenging, especially in those with TSC, where tumours are usually larger and multiple. Although SAE was effective at controlling haemorrhage in the acute setting it was deemed to be of limited value in the longer term management of these tumours. Thus novel techniques such as focused ablation and pharmacological therapies including the use of anti‐angiogenic molecules and mTOR inhibitors, which might prove to be safer and equally effective, should be further explored.

We examined the relation of APOE-epsilon 4, hippocampal volume, and cognitive performance in ten pairs of cognitively normal twins who had a mean age of 62.5 years (SD = 7.8). There were no significant differences in neuropsychological measures of the groups categorized by the presence of an epsilon 4 allele. However, the mean normalized right and left hippocampal volumes were smaller in the epsilon 4 groups compared to the group without epsilon 4. Combined with prior reports, these findings suggest that epsilon 4 is associated with differences in brain morphology that may be evident when no symptoms of dementia are present.

This study quantified lesion volume in relation to damage location and executive functioning in traumatic brain-injured (TBI) patients. Magnetic resonance (MR) scans of 68 TBI patients were analyzed by taking volumetric measures of lesion sites. Patients were grouped according to the presence/absence of frontal lobe lesions. Measures of frontal lesion volume were studied as predictors for outcome on designated tests of executive functioning (Halstead Category Test and Wisconsin Card Sorting Test). Results showed no significant differences in level of deficit between groups. In addition, no significant differences were found between groups on other tests of neuropsychological functioning (Trail Making Test, Parts A and B, and Wechsler Adult Intelligence Scale-Revised). These results suggest that tests that are traditionally used to detect "frontal lobe" damage may not be adequate for distinguishing specific frontal lobe dysfunction, and do not add anything unique about frontal lobe integrity and neuropsychological functioning in TBI patients.

In traumatically brain-injured (TBI) patients (N = 83), memory performance was examined on the Warrington Recognition Memory Test, Rey-Osterrieth Complex Figure, and the Logical Memory and Visual Reproduction subtests of the Wechsler Memory Scale-Revised in relationship to time postinjury and structural changes based on MRI volumetry, including hippocampus volume. Significant trauma-induced changes were observed, including hippocampal atrophy. Structurefunction relationships generally became significant only after 90 days postinjury. Memory tended to relate more to the degree of hippocampal atrophy, particularly left hippocampus, than to nonspecific indicators such as the temporal horns or the ventricle-to-brain ratio. A stronger relationship with left versus right hippocampus was evident for measures of verbal and supposedly nonverbal memory. These results are discussed with regard to the role the hippocampus may play in a neural system of memory.Current MRI technology provides the means by which cortical and subcortical structures can be quantified in their normal and pathologic state (Blatter et al., 1995, in press).Recently, we demonstrated that cerebral trauma, as a consequence of closed head injury, results in hippocampal atrophy (Bigler et al., in press). This comes as no surprise, because the mesial temporal lobe is a vulnerable site to injury (Gale,

Significant anoxia may cause a variety of neuropathologic changes as well as cognitive deficits. We have recently seen 3 patients who have suffered severe anoxic episodes all with initial Glasgow Coma Scores (GCS) of 3 with sustained coma for 10–14 d. All 3 patients had extended hospitalizations and rehabilitation therapy. A neuropsychological test battery was administered and volumetric analyses of MRI scans were carried out in each case at least 6 mo postinjury. Two of the patients display distinct residual cognitive and neuropathologic changes while 1 patient made a remarkable recovery without evidence of significant morphological abnormality. These three cases demonstrate, that even with similar admission GCS, the outcome is variable and the degree of neuropsychological impairment appears to match the degree of morphologic abnormalities demonstrated by quantitative MR image analysis. An important finding of this study is that even though subjects with an anoxic insult exhibit severe cognitive and memory impairments along with concomitant morphologic changes, their attention/concentration abilities appear to be preserved. MR morphometry provides an excellent means by which neural structural changes can be quantified and compared to neuropsychological and behavioral outcomes. (JINS, 1995, I, 501–509.)