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Uner Tan Syndrome

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by

Anauris Soto

on 26 February 2014

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Transcript of Uner Tan Syndrome

Cause
Autosomal Recessive Gene
It is not a sex linked gene since it's only available from incest.
It is only inherited within family members. Dr.Tan said: "All of the individuals exhibiting Uner Tan syndrome belonged to consanguineous families, that is, the father and mother were close relatives, suggesting that an autosomal recessive transmission may be responsible for the syndrome."

Interesting
Facts
Mixing in their mutation with other issues that come from incest, like mental retardation, scientists believe that an ancient gene referred to our ancestors, the Apes, has filled in the gap the cerebellum was unable to provide.
In other words, scientists believe that those with Uner Tan Syndrome are one of the many missing links in human evolution. They argue that they are experiencing the human evolution backwards.
Testing and Screening
Individuals from each family was screened with an MRI and PET exam. Scientists found inferior cerebellar hypoplasia, an underdevelopment in the cerebellum.
However, scientists believe that it wasn't one mutation that was responsible, but multiple ones that caused the shrinkage. A popular belief is that a mutation caused the cerebellum to shrink over the years, causing issues with balance and typical motor skills along with mental retardation and others.
Sources
http://cogprints.org/8967/
http://blogs.plos.org/neuroanthropology/2010/09/03/human-quadruped-uner-tan-syndrome-part-1/
http://blogs.plos.org/neuroanthropology/2010/09/05/2-legs-good-4-legs-better-uner-tan-syndrome-part-2/
Uner Tan Syndrome
Facts of the Disease
Between 2005 and 2010, 10 families exhibiting the syndrome were discovered in Turkey: 14 women (42.4%) and 19 men (57.6%). Including a few cases from other countries, there were 25 men (64.1%) and 14 women (35.9%).
The number of men significantly exceeded the number of women.
It's more common in the Country of Turkey, where it was originally found.

Symptoms
Dysdiadochokinesis (inability to execute rapidly
alternating movements particularly of the limbs)
Dysmetria (involuntary rhythmic eye movement, with the eyes moving quickly in one direction, and then slowly in the other)
Intention tremor (walking side by side)

Treatments
One of the relatives of one family affected with Uner Tan Syndrome was a physician and attempted physical treatment of the affected children, but without success.
A mother forced her quadrupedal daughter to walk upright for six years, but without success.
The Uner Tan Syndrome was discovered by a Turkish evolutionary biologist, Dr. Üner Tan in the year 2005 when he visited a family in his country. What they found was a

revolutionary breakthrough in the world of science that may possibly fill the gap of how we came to be. He witnessed 4 family members, 3 women and 1 man, walking on all fours due to a genetic disorder they carry in their genes.

Introduction
Documentary:
By Anauris Soto
Full transcript