Development of the UK Hereditary Spastic Paraplegia registry: analysis of SPAST patients reveals high rate of psychiatric comorbidities (S54.008)

Conclusions:This study, one of the largest collections of genetically confirmed spastin patients to date, contributes with the discovery of a significant number of novel SPAST mutations and provides new insights into SPAST related HSP. In particular, the previously under-recognized association with autism and psychiatric illness needs to be confirmed in other genes and cohorts to determine if this is a specific effect of spastin mutations.Disclosure: Dr. Chelban has nothing to disclose. Dr. Tucci has nothing to disclose. Dr. Houlden has nothing to disclose. Dr. Wood has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Chelban, V., Tucci, A., Houlden, H., Wood, N. Tags: Motor Neuron Disease and Myopathies Source Type: research