Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity - Heussinger, Nicole; Saake, Marc; Mennecke, Angelika; Dörr, Helmuth-Günther; Trollmann, Regina (Pediatric neurology, 2017)
Keywords: Adolescent; Atrophy - blood; Atrophy - diagnostic imaging; Atrophy - genetics; Atrophy - psychology; Brain Diseases, Metabolic, Inborn - blood; Brain Diseases, Metabolic, Inborn - diagnostic imaging; Brain Diseases, Metabolic, Inborn - genetics; Brain Diseases, Metabolic, Inborn - psychology; Child; Creatine - blood; Creatine - deficiency; Creatine - genetics; CRTD; epilepsy; Female; Genotype; genotype–phenotype correlation; Humans; intellectual disability; Intellectual Disability - blood; Intellectual Disability - diagnostic imaging; Intellectual Disability - genetics; Intellectual Disability - psychology; magnetic resonance spectroscopy; Male; Mental Retardation, X-Linked - blood; Mental Retardation, X-Linked - diagnostic imaging; Mental Retardation, X-Linked - genetics; Mental Retardation, X-Linked - psychology; Middle Aged; Mutation, Missense; Nerve Tissue Proteins - genetics; Neurology; Pediatrics; Phenotype; Plasma Membrane Neurotransmitter Transport Proteins - blood; Plasma Membrane Neurotransmitter Transport Proteins - deficiency; Plasma Membrane Neurotransmitter Transport Proteins - genetics; SLC6A8 gene mutation; White Matter - diagnostic imaging; White Matter - metabolism; white matter atrophy; CRTD; epilepsy; genotype–phenotype correlation; SLC6A8 gene mutation; magnetic resonance spectroscopy; white matter atrophy; intellectual disability; Hamburger-Wechsler- Intelligenztests für Erwachsene; tCr; MRI; Normalized total creatine; Electroencephalography; genotype-phenotype relation; MRS; Cr; HAWIE; tNAA; NRXI; Voxel based morphometry; androgen receptor; WM; total N-acetylaspartate; X-linked creatine transporter deficiency; polymerase chain reaction; VBM; Creatinine; Magnetic Resonance Spectroscopy; EEG; GAA; White matter; Guanidinoacetate; non-random X-inactivation; Kaufmann Assesment Battery for Children; AR; Magnetic resonance imaging; HAWIK; creatine; K-ABC; Hamburger-Wechsler- Intelligenztests für Kinder; nCr; total Cr; Crn; PCR