Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation

Clin Neurol Neurosurg. 2012 Nov;114(9):1280-2. doi: 10.1016/j.clineuro.2012.03.008. Epub 2012 Apr 10.

Authors

Vito Pavone¹, Andrea Domenico Praticò, Enrico Parano, Piero Pavone, Alberto Verrotti, Raffaele Falsaperla

Affiliation

¹ Division of Orthopedics, Orthopedics Clinic, University of Catania, Catania, Italy. [email protected]

PMID: 22498705
DOI: 10.1016/j.clineuro.2012.03.008

No abstract available

Publication types

Case Reports

MeSH terms

Autistic Disorder / genetics*
Autistic Disorder / pathology*
Autistic Disorder / psychology
Blood Cell Count
Brain / abnormalities*
Child
Child Behavior
Hemangioma / congenital
Hemangioma / genetics
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology*
Intellectual Disability / psychology
Magnetic Resonance Imaging
Male
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Nervous System Malformations / genetics*
Nervous System Malformations / pathology*
Spine / abnormalities*

Substances

MTHFR protein, human
Methylenetetrahydrofolate Reductase (NADPH2)