Polymodal therapy for high grade gliomas: a case report of favourable outcomes following intraoperative radiation therapy.

High grade gliomas, frequently with their infiltrative nature, often make the outcome from neurosurgical intervention alone unsatisfactory. It is recognized that adjuvant radiochemotherapy approaches offer an improved prognosis. For these reasons, we opted for surgical debulking, intraoperative radiation therapy (IORT) in combination with whole brain irradiation therapy and chemotherapy (temozolamide cycles) in the management of a 42 year-old lady with Glioblastoma Multiforme (GBM). Her troublesome symptoms improved after 3 months of this polymodal therapy and remained independently functional for more than two years.

Neuronavigation-guided endoscopic management of a pineal region tumour with obscured floor of the third ventricle: case report.

BACKGROUND: Shunt surgery is frequently chosen to manage periventricular metastasis of pineal region tumours which obscured the floor of the third ventricle. However, this procedure falls short due to distant metastasis. Neuronavigation-guided endoscopic surgery offers a viable alternative. PATIENT: A 17-year-old man became symptomatic from widespread periventricular metastasis of a pineal region tumour which completely obscured the floor of the third ventricle. RESULTS: Endoscopic tumour biopsy followed by neuronavigation-guided endoscopic third ventriculotomy was performed successfully. CONCLUSION: This case report emphasizes the value of neuronavigation-guided endoscopic third ventriculostomy as a feasible surgical alternative for pineal region tumours with widespread periventricular metastasis that obscure the third ventricular floor.

LINAC based radiosurgery and radiotherapy for neurosurgical diseases: what have we learnt so far.

BACKGROUND: Stereotactic radiosurgery uses a single fraction high dose radiation while stereotactic radiotherapy uses multifractionated lower dose focused radiation. MATERIALS AND METHODS: Radiosurgery used rigid CRW head frame while stereotactic radiotherapy utilized GTC or HNL relocatable frames. Stereotactic planning and radiation involved Radionics X-plan and LINAC system. RESULTS: Since December 2001, we have treated 83 lesions from 77 patients using either radiosurgery or fractionated stereotactic radiotherapy. Eighty six percent (86%) of our treated lesions showed favourable outcomes with median follow-up of 32 months (0-7 years). CONCLUSIONS: Our lessons from LINAC precision radiation therapy uphold its value as a promising and effective tool in treating a range of nervous system pathologies.

Case control analysis of repeat expansion size in ataxia.

Spinocerebellar ataxias (SCAs) are a group of clinically and genetically heterogeneous neurological diseases. The expansion of unstable microsatellite repeats has been identified as the underlying pathogenic cause of 10 subtypes of autosomal dominant SCAs. The aetiology of sporadic SCA is unknown. The aim of this study was to investigate the effect of large normal repeats in patients presenting with sporadic or familial ataxia compared to a control population. The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: SCA-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin. There was no difference between cases and controls in the distribution of the large normal alleles, or in the distribution of the combined CAG repeats. The normal allele distribution in the Welsh population was largely similar to that of other Caucasian populations. Our study failed to demonstrate an effect of large normal repeats on the susceptibility to develop ataxia.

Population based study of late onset cerebellar ataxia in south east Wales.

OBJECTIVE: To determine the prevalence and causation of late onset cerebellar ataxia (LOCA) in south east Wales, United Kingdom. METHODS: A population based study of LOCA was conducted in a defined geographical region with a total population of 742,400. Multiple sources of ascertainment were used to identify all cases prevalent on 1 January 2001. The inclusion criteria were: a predominantly progressive cerebellar ataxia with onset of symptoms at age > or = 18 years; and disease duration of > or = 1 year. Cases with known acquired ataxias, ataxic syndromes with associated prominent autonomic dysfunction and/or atypical parkinsonism suggestive of multiple system atrophy and disorders with ataxia as a minor feature were excluded. RESULTS: We identified 76 index cases of LOCA, of whom 63 were sporadic, idiopathic LOCA (ILOCA) and 13 were familial LOCA, of whom six had either spinocerebellar ataxia type 6, Friedreich's ataxia or dominant episodic ataxia. The mean annual incidence rate for the period 1999-2001 was 0.3/100,000 population/year. The crude prevalence rates were 8.4 per 100,000 (95% CI 7.2 to 11.6) for ILOCA and 1.8 per 100,000 (95% CI 0.8 to 2.7) for inherited LOCA. Of the 54/63 (85.7%) patients with ILOCA who were assessed, mean (SD) age at onset of symptoms was 53.8 (14.1) years (range 19 to 78) with a male:female ratio of 2.1:1. The mean disease duration was 8.7 (6.3) years (range 1 to 31). The most frequent presenting complaint was disturbance in gait (90.7%). One-third had a relatively pure cerebellar syndrome (33.3%) and two-thirds (66.7%) had additional extracerebellar neurological features. The majority (92%) were ambulant but only 9.3% were independently self-caring. CONCLUSION: This population based study provides insight into LOCA within a defined region and will inform decisions about the rational use of healthcare resources for patients with LOCA.