[Association between VAPB mutations and familial amyotrophic lateral sclerosis in Chinese patients]

To explore the mutations of VAPB (vesicle associated membrane protein/synaptobrevin associated membrane protein B) in Chinese patients with familial amyotrophic lateral sclerosis (FALS).

The clinical data were collected from 40 FALS families from 2008 to 2011 and the mutations of VAPB gene screened in probands using polymerase chain reaction (PCR) and direct sequencing.

All 40 ALS families were of autosomal dominant inheritance. The male-to-female ratio of probands was 1:0.7 and the average onset age (49 ± 12) years. Upper limb onset accounted for 52.5%, lower limb onset 42.5% and bulbar onset 5.0%. No mutations were detected in VAPB gene.

VAPB mutations are not a common cause and ALS8 is rare in Chinese FALS.