%A Prof. Dr.  Uner Tan
%J WebmedCentral NEUROLOGY:WMC00645
%T Two New Cases of Uner Tan Syndrome: One Man
with Transition from Quadrupedalism to Bipedalism;
One Man with Consistent Quadrupedalism
%X Background: Uner Tan syndrome, first described in
2005, consists of three main symptoms: habitual
locomotion on all four extremities, impaired
intelligence, and dysarthric or no speech. This
extremely rare syndrome shows an autosomal
recessive inheritance due to consanguineous
marriages between parents. In general, there is a
cerebellovermial hypoplasia with a mild gyral
simplification in the cerebral cortex. Truncal ataxia is
the main neurological finding, causing difficulty in
standing and upright walking on two legs.
Methods: As soon as the new cases came to light, the
family was visited. After taking the basic information
about the family members, the traditional neurological
examinations were performed, MRI scans of the
patients and of a healthy family member were taken in
a hospital nearest to the residence (a small village
near Kars, Turkey). The patients were also filmed to
analyze their walking patterns.
Results: Two individuals (case 1, 44y; case 2, 43y)
among six siblings from a family with consanguineous
parents exhibited Uner Tan syndrome, with
quadrupedalism, impaired intelligence, and dysarthric
speech. Their pedigree suggested an autosomal
recessive inheritance. MRI scans showed inferior
cerebellovermial and pontobulbar hypoplasia.
Case 1 did not display hypotonia, while case 2 had
been hypotonic for two years after birth. Case 2?s
hypotonia progressively disappeared, and at three
years old he started to sit, and could walk on all fours
by the age of four. Case 1 was quadrupedal for 20
years, and then walked upright with the aid of a
walking stick. Tendon reflexes were normal in case 1
but hyperactive in the lower extremities of case 2;
Babinsky was absent in case 1 but bilaterally present
in case 2. There was no nystagmus, no strabismus,
and no pes pedus in either case. Cognition was
severely impaired in both.
Conclusion: The emergence of quadrupedalism
during development, with a transition into bipedalism
in case 1, and the emergence of the quadrupedalism
after a full hypotonia and no locomotion in case 2,
were considered as examples of the processes of
adaptive self-organization, from the viewpoint of
dynamic systems theory.
%N 9
%K Uner Tan syndrome, locomotion, quadrupedalism, speech, ataxia, self-organization
%P 1-11
%E Prof.Dr. Uner Tan 
%V 1
%D 2010
%I WebmedCentral
%L cogprints7035

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