An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.

We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility.

The symptomatology of Alzheimer's disease: a cross-cultural study.

OBJECTIVE: This paper presents the results of a trans-cultural study looking at the possible differences in the symptomatology of Alzheimer's disease (AD) in people from Manchester, UK and Rawalpindi, Pakistan. METHODS: Two groups of people with AD (45 in each group) were recruited at the two sites. The participants and their carers were interviewed to investigate possible differences in demographics and symptomatology including cognition, depression, personality change and every day activities. The instrument used included the Mini Mental State Examination (MMSE), Geriatric Depression Scale (GDS), Cornell Scale for Depression in Dementia (CSDD), The Brooks and McKinlay Personality Inventory and Informant Questionnaire on Cognitive Decline in the Elderly (IQ CODE). RESULTS: The data analysis showed that compared to people from Manchester the Pakistanis had lower literacy levels but similar cognitive deficits when MMSE scores were adjusted for education. They were however more depressed; they had a different profile of personality change since the onset of illness and their reported changes in activities of daily living were more severe. CONCLUSION: The study has shown a number of possible cultural differences in affective symptoms, personality changes and every day activities. It highlights the need for developing mental health services for older people in Pakistan and making UK services more accessible for this growing community. Further research on service and care needs along with developing culturally sensitive instruments for assessing cognition, psychiatric symptoms, personality changes and daily activities is needed.