History
The Hippocratic Corpus, a collection of medical works from ancient Greece, mentions concussion, later translated to commotio cerebri, and discusses loss of speech, hearing and sight that can result from "commotion of the brain". This idea of disruption of mental function by "shaking of the brain" remained the widely accepted understanding of concussion until the 19th century. In the 10th century, the Persian physician Muhammad ibn Zakarīya Rāzi was the first to write about concussion as distinct from other types of head injury. He may have been the first to use the term "cerebral concussion", and his definition of the condition, a transient loss of function with no physical damage, set the stage for the medical understanding of the condition for centuries.In the 13th century, the physician Lanfranc of Milans Chiurgia Magna described concussion as brain "commotion", also recognizing a difference between concussion and other types of traumatic brain injury (though many of his contemporaries did not), and discussing the transience of post-concussion symptoms as a result of temporary loss of function from the injury. In the 14th century, the surgeon Guy de Chauliac pointed out the relatively good prognosis of concussion as compared to more severe types of head trauma such as skull fractures and penetrating head trauma. In the 16th-century, the term "concussion" came into use, and symptoms such as confusion, lethargy, and memory problems were described. The 16th century physician Ambroise Paré used the term commotio cerebri, as well as "shaking of the brain", "commotion", and "concussion".
X-linked Leigh syndrome
Leigh syndrome can also be caused by deficiency of the pyruvate dehydrogenase complex (PDHC), most commonly involving a PDHC subunit which is encoded by an X-linked gene (OMIM 308930). The neurological features of Leigh syndrome caused by PDHC deficiency are indistinguishable from other forms. However, non-neurological features (other than lactic acidosis) are not seen in PDHC deficiency.X-linked recessive Leigh syndrome affects male children far more often than female children because they only have one copy of the X chromosome. Female children would need two copies of the faulty gene to be affected by X-linked Leigh syndrome. French Canadian Leigh syndrome
The type of Leigh syndrome found at a much higher rate in the Saguenay-Lac-Saint-Jean region of Quebec is caused by a mutation in the LRPPRC gene, located on the small (p) arm of chromosome 2. Both compound heterozygosity and homozygous mutations have been observed in French Canadian Leigh syndrome. This subtype of the disease was first described in 1993 in 34 children from the region, all of whom had a severe deficiency in cytochrome c oxidase (COX), the fourth complex in the mitochondrial electron transport chain. Though the subunits of the protein found in affected cells were functional, they were not properly assembled. The deficiency was found to be almost complete in brain and liver tissues and substantial (approximately 50% of normal enzyme activity) in fibroblasts (connective tissue cells) and skeletal muscle.