Gilles de La Tourette syndrome: the contribution of Guinon

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Some researchers suggest that altruism operates on empathy. Empathy is the capacity to understand another person’s perspective, to feel what he or she feels. An empathetic person makes an emotional connection with others and feels compelled to help (Batson, 1991). Empathy can be expressed in several ways, including cognitive, affective, and motor.

Sigmund Freud, an Austrian neurologist born in 1856, significantly influenced psychology through his exploration of the unconscious mind. His interest in patients suffering from hysteria and neurosis — conditions without apparent physical causes — led him to theorize the existence of an unconscious mind, a repository for feelings and urges beyond our awareness. Freud's innovative approach included techniques such as dream analysis, free association, and attention to slips of the tongue to...

Gordon Allport, often regarded as the father of American personality psychology, developed a theory that emphasized the importance of understanding people in their present lives rather than focusing on their past, as psychoanalysis did. Allport believed that personality should be studied in healthy, well-adjusted individuals rather than those with psychological problems. He was particularly interested in defining traits, which he saw as fundamental mental structures that guide behavior across...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...