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Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
Bipedalism is a form of terrestrial locomotion where an animal moves by means of its two rear limbs or legs. An animal or machine that usually moves in a bipedal manner is known as a biped, meaning 'two feet'. Types of bipedal movement include walking or running and hopping.
Quadrupedalism is a form of locomotion where animals have four legs that are used to bear weight and move around. An animal or machine that usually maintains a four-legged posture and moves using all four legs is said to be a quadruped. Quadruped animals are found among both vertebrates and invertebrates.
A unibrow is a single eyebrow created when the two eyebrows meet in the middle above the bridge of the nose. The hair above the bridge of the nose is of the same color and thickness as the eyebrows, such that they converge to form one uninterrupted line of hair.
Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder that is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with some ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome, or Gillespie syndrome.
Knuckle-walking is a form of quadrupedal walking in which the forelimbs hold the fingers in a partially flexed posture that allows body weight to press down on the ground through the knuckles. Gorillas and chimpanzees use this style of locomotion, as do anteaters and platypuses.
The Family That Walks on All Fours is a BBC Two documentary that explored the science and the story of five individuals in the Ulas family, a Turkish family in Southeastern Turkey that walk with a previously unreported quadruped gait.
Cerebellar abiotrophy (CA), also called cerebellar cortical abiotrophy (CCA), is a genetic neurological disease in animals, best known to affect certain breeds of horses, dogs and cats. It can also develop in humans. It develops when the neurons known as Purkinje cells, located in the cerebellum of the brain, begin to die off. These cells affect balance and coordination. They have a critical role to play in the brain. The Purkinje layer allows communication between the granular and molecular cortical layers in the cerebellum. Put simply, without Purkinje cells, an animal loses its sense of space and distance, making balance and coordination difficult. People with damage to the cerebellum can experience symptoms like unsteady gait, poor muscle control, and trouble speaking or swallowing.
Uner Tan was a Turkish neuroscientist and evolutionary biologist. He is best known for his discovery and study of the human quadrupedal condition he named the Uner Tan syndrome. He taught at Çukurova University until his retirement in 2004 and had previously taught at several other institutions.
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.
Uner Tan syndrome (UTS) is a syndrome that was discovered by the Turkish evolutionary biologist Üner Tan. People affected by UTS walk with a quadrupedal locomotion and often have severe learning disabilities. Tan postulated that this is an example of "reverse evolution" (atavism). The proposed syndrome was featured in the 2006 BBC2 documentary The Family That Walks On All Fours.
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia, ataxia, and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.
John Skoyles is a neuroscientist and evolutionary psychologist. He studied philosophy of science at the London School of Economics and then did MRC funded research upon neuroscience and dyslexia at University College London.
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with their eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
Corneal-cerebellar syndrome is an autosomally recessive disease that was first described in 1985. Three cases are known: all are sisters in the same family.
Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 800 children and adults have been reported worldwide.
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability. It falls under the category of a Joubart Syndrome-related disorder (JSRD).
References
- ↑ "Family Walks on All Fours, May Offer Evolution Insight, Experts Say". National Geographic News March 8, 2006. Archived from the original on May 24, 2016.
- ↑ "Science May Finally Explain Why This Family Walks On All Fours". Huffington Post . 17 July 2014. Archived from the original on 2016-05-09.
- ↑ Türkmen S, Demirhan O, Hoffmann K, et al. (May 2006). "Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p". J. Med. Genet. 43 (5): 461–4. doi:10.1136/jmg.2005.040030. PMC 2564522 . PMID 16371500.
- ↑ Tan U (March 2006). "A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution" (PDF). Int. J. Neurosci. 116 (3): 361–9. doi:10.1080/00207450500455330. PMID 16484061. S2CID 6482447. Archived from the original (PDF) on August 18, 2021.
- 1 2 3 4 Humphrey N.; Keynes R.; Skoyles J.R. (2005). "Hand-walkers : five siblings who never stood up" (PDF). Discussion Paper. London, UK: Centre for Philosophy of Natural and Social Science. Archived (PDF) from the original on 2006-10-11.
- ↑ "NOVA | Family That Walks on All Fours | the Family and Me | PBS". PBS . Archived from the original on 2012-01-11. Retrieved 2017-10-24.