Oct 2011

Pontine to midbrain ratio: useful in NPC

THE PONTINE TO MIDBRAIN RATIO: USEFUL IN NPC, TOO

Niemann-Pick type C (NPC) disease is a rare autosomal recessive disorder that presents in adults with cognitive and motor disturbance, psychosis, and highly prominent vertical gaze palsy. We aimed to see if a validated measure in other disorders that demonstrate midbrain atrophy and have vertical gaze impairments was also useful in NPC. By examining a group of adult NPC patients and a larger group of matched controls, we showed that the pontine to midbrain ratio (PMR) - which, when elevated, reflects midbrain atrophy and consequent impairment of saccadic burst neurons that control eye gaze. We showed that this ratio is increased in NPC, although not to the same degree seen in other disorders such as progressive supranuclear palsy. However, this ratio was highly correlated to duration of illness and a range of measures of illness severity, including cognitive and ocular-motor functioning. The PMR may thus be a useful diagnostic and illness marker in NPC.

The paper can be found here.
Walterfang et al.
Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann–Pick disease type C. Eur J Neurol, in press 2011.

AAV Professional Development Seminar

Dr Wendy Kelso will be presenting at an Alzheimer’s Australia (Victoria) professional development seminar on 23rd of November 2011, on Cognitive Assessment in Dementia. These seminars train staff from AAV in various aspects of dementia care, to facilitate their delivery of service to dementia patients and their families in the community.