Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.

An avant-garde professorship of neurobiology in education: Christofredo Jakob (1866-1956) and the 1920s lead of the National University of La Plata, Argentina.

The interdisciplinary trend in "Mind, Brain, and Education" has witnessed dynamic international growth in recent years. Yet, it remains little known that the National University of La Plata in Argentina probably holds the historical precedent as the world's first institution of higher education that formally included neurobiology in the curriculum of an educational department, having done so as early as 1922. The responsibility of teaching neurobiology to educators was assigned to Professor Christofredo Jakob (1866-1956).

Christfried Jakob's late views (1930-1949) on the psychogenetic function of the cerebral cortex and its localization: culmination of the neurophilosophical thought of a keen brain observer.

This article follows the culmination of the scientific thought of the neurobiologist Christfried Jakob (1866-1956) during the later part of his career, based on publications from 1930 to 1949, when he was between 64 and 83 years of age. Jakob emphasized the necessity of bridging philosophy to the biological sciences, neurobiology in particular. Thus, we consider him as one of the early protagonists in the emergence of neurophilosophy in the 20th century.

Challenging the supremacy of the frontal lobe: early views (1906-1909) of Christfried Jakob on the human cerebral cortex.

This article focuses on a series of six studies that address functional localization in the frontal lobe; they were published in Argentina between 1906 and 1909 by Christfried Jakob (1866-1956), one of the great thinkers in early 20th century neuropathology and neurophilosophy. At that time, the localization-holism controversy was at a peak, having been triggered by the historic Marie-Déjerine aphasiology debate. Jakob held the view that constitutive physiological elements of cognition are localized.

Christfried Jakob's 1921 Theory of the Gnoses and Praxes as fundamental factors in cerebral cortical dynamics.

This study aims at reviving an important contribution by the pioneer neurobiologist and neurophilosopher Christfried Jakob (1866-1956) to the understanding of higher cortical functions. Jakob studied cortical dynamics at multiple levels by comparing gnoses and praxes and their corresponding pathological states, i.e.