Background and Objective: The promoter of the apolipoprotein E (APOE) gene is polymorphic at positions -491A/T, -427C/T and -219G/T. These single nucleotide polymorphisms may alter transcriptional activity and impact APOE expression due to differential binding of transcription factors. It has been suggested that the -491 A, -427 C and -219 T alleles are associated with a high risk of developing Alzheimer’s disease. This study aims to investigate the frequencies of APOE promoter polymorphisms in three major ethnic groups (Malay, Chinese and Indian) in Malaysia. Method: DNA was extracted from blood obtained from 290 healthy people (Malay: n= 92; Chinese: n= 105; and Indian: n= 93), and the promoter region was amplifi ed using PCR and genotyped by direct sequencing. Result: The Indian group has the lowest frequencies of - 491 A, - 427 C and - 219 T alleles (83.9%, 3.2% and 56.5%, respectively) compared to the Chinese group with the highest frequencies (97.1%, 11.9% and 67.1%, respectively). The frequencies in the Malay group were somewhere in between (94.6%, 8.2% and 61.4%, respectively). Moreover, for the - 491 and - 427 positions, the frequencies of possible genotypes viz., AA or AT or TT and CC or CT or TT, respectively, were statistically signifi cant (P < 0.05, Chi- Square Test) between the 3 ethnic groups. Conclusion: Based on the frequency of APOE promoter polymorphisms alone, the ethnic Indian may be predisposed to lower risks for AD than the Chinese or Malay.

Methods: Questionnaire items were created based on a literature review, followed by a process of content validation by experts and modification based on expert opinions to achieve an acceptable content validity index (CVI, 0.70–1.00). To calculate factor loadings for each question, a pilot test was subsequently conducted from a pool of patients who underwent lumbar spine surgeries for degenerative spine diseases. Results: All items achieved a CVI of >0.85 for both relevancy and clarity and were successfully validated after appropriate corrections were made before the second validation phase. Except for Q9 and Q10, which showed low-loading factors in the pooled sample, the remainder of the items had acceptable loading factors across different subgroups, indicating that the passage of time did not affect the results of the exploratory factor analysis. Conclusions The retrospective questionnaire that encompasses the general well-being and lumbar-specific symptoms is a valid and reliable instrument to provide an impression of the outcome after intervention in a patient with a degenerative lumbar spinal disease. A summative score will indicate the overall outcome.

The complex pathophysiology of traumatic brain injury, its cascading effects and a varied outcome suggest that factors such as genetics may permeate and modulate the neurocognitive outcomes in patients with mild traumatic brain injury (mTBI). This study was conducted to determine the relationship between genetic polymorphism of apolipoprotein E, and neurocognitive and functional outcomes in mTBI. Twenty-one patients with mTBI were recruited prospectively. The severity of the injury was established with the Glasgow Coma Score (GCS). Other assessments included the CT Scan of the head on admission, Disability Rating Scale, Chessington Occupational Therapy Neurological Assessment (COTNAB) and Glasgow Outcome Scale (GOS). The Spearmen correlation analysis of ApoE allele status and the cognitive and functional assessments saw some association with the Sensory Motor Ability - Coordination (-0.526, p<0.05), Communication Ability (-0.651, p<0.05), and the Employability (Return to Work) at 1st month (0.455, p<0.05). Notably, the deficits of specific attributes of visuospatial and sensory motor function were seen with greater impairment consistently observed in patients with ApoE e4 allele. In conclusion, the preliminary findings support the possible relationship that exists between ApoE e4 and neurocognitive impairment in mTBI, despite good functional recovery in 6 months post injury.

Congenital intracranial tumors are rare and account for 0.5 to 1.5% of all childhood tumours. We report a case of a 3 week old baby presenting with multi compartmental congenital intracranial immature teratoma, fi rst of its kind in the literature. The child had gross total excision in two stages with aid of neuronavigation. The short term outcome was good. The four years of follow-up with serial imaging showed no tumour recurrence with a stable hydrocephalus after shunting. However, there is global developmental delay with full time dependence of care giver

Intravascular lymphoma (IVL) is a rare subtype of extranodal diffuse large cell lymphoma, characterized by intravascular proliferation of B or T lymphocytes within small blood vessels; which may lead to occlusive symptoms, its neurological involvement has been said to be uncommon among Asians.1 We describe a Malaysian with central nervous system IVL, to demonstrate that IVL is an important differential diagnosis in diffuse brain pathology also among Asians.

Progressive multifocal leukoencephalopathy (PML) is a rapidly progressive demyelinating disease caused by the reactivation of JC papova virus usually in immunocompromised hosts.1 The disease is a chronic viral infection resulting in mortality within a year.2 The condition characterized by white matter changes in multiple locations of the brain is caused by destruction of the oligodendrogliocytes.2 We report a case of AIDS associated PML presenting with progressive cerebellar symptoms, with the unusual feature of imaging abnormalities limited to the posterior fossa.