The major pathway by which the brain obtains essential omega-3 fatty acids from the circulation is through a sodium-dependent lysophosphatidylcholine (LPC) transporter (MFSD2A), expressed in the endothelium of the blood-brain barrier. Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. We show that the p.Ser339Leu alteration does not affect protein or cell surface expression but rather significantly reduces, although not completely abolishes, transporter activity. Notably, affected individuals displayed significantly increased plasma concentrations of LPCs containing mono- and polyunsaturated fatty acyl chains, indicative of reduced brain uptake, confirming the specificity of MFSD2A for LPCs having mono- and polyunsaturated fatty acyl chains. Together, these findings indicate an essential role for LPCs in human brain development and function and provide the first description of disease associated with aberrant brain LPC transport in humans.

Study design: Cross-sectional study. Objectives: To establish whether inter-professional rehabilitation goals from people with non-traumatic spinal cord injury (SCI) can be classified against the International Classification of Functioning, Disability and Health (ICF) SCI Comprehensive and Brief Core Sets early postacute situation. Setting: Neurological rehabilitation unit. Methods: Rehabilitation goals of 119 patients with mainly incomplete and non-traumatic SCIs were classified against the ICF SCI Core Sets following established linking rules. Results: A total of 119 patients generated 1509 goals with a mean (and s.d.) of 10.5 (9.1) goals per patient during the course of their inpatient rehabilitation stay. Classifying the 1509 rehabilitation goals against the Comprehensive ICF Core Set generated 2909 ICF codes. Only 69 goals (4.6%) were classified as 'not definable (ND)'. Classifying the 1509 goals against the Brief ICF Core Set generated 2076 ICF codes. However, 751(49.8%) of these goals were classified as 'ND'. In the majority of goals (95.7%), the ICF code description was not comprehensive enough to fully express the goals set in rehabilitation. In particular, the notion of quality of movement or specificity and measurability aspects of a goal (usually described with the criteria and acronyms SMART) could not be expressed through the ICF codes. Conclusion: Inter-professional rehabilitation goals can be broadly described by the ICF Comprehensive Core Set for SCI but not the Brief Core Set. Spinal Cord (2016) 54, 324-328; doi:10.1038/sc.2015.155; published online 8 September 2015 INTRODUCTIONSpinal cord injuries may have profound effects on the physical functioning of an individual and cause activity limitations and participation restrictions. 1 The level of lesion and the degree of neurological completeness/incompleteness influence the physical ability following a spinal lesion, but quality of life in spinal cord injury (SCI) is largely determined by activity and participation issues, such as personal care, community transportation and stable relationships. 2 The ability to describe, classify and code information and measurements on such a broad range of health issues requires a common framework and language. The Word Health Organisation endorsed the International Classification of Functioning, Disability and Health (ICF) as a member of the family of international classifications and was designed to provide such a framework; it aimed to 'establish a common language for describing health-related states in order to improve communication ' (p3). 3 The ICF understands human functioning to be the result of complex interactions between health conditions and environmental and personal factors.

No abstract