3 mm, small cerebellar volume, normal cerebellar vermis
, unclear commissura optica, and small right eyeball.
Although it is known with the classical triad of hypoplasia of cerebellar vermis
, cystic dilatation of the fourth ventricle and hydrocephalus, different definitions were also suggested as a result of studies till date (6) (Table 1).
1,2] JS is an autosomal recessive neurodevelopmental disorder, characterized by molar tooth malformation, a complex brainstem malformation that reflects aplasia and marked hypoplasia of cerebellar vermis
, thickened and elongated superior cerebellar peduncles, and deepened interpeduncular fossa that is apparent on axial magnetic resonance imaging (MRI) at the midbrain-hindbrain junction.
Marie Joubert and coworkers in 1969, for the first time described four siblings with ataxia, cognitive impairment, eye movement abnormalities, cerebellar vermis
agenesis, and episodic tachypnea in a French- Canadian family.
In JS, dysfunction of the primary cilium during embryonic development leads to underdevelopment or malformation of the cerebellar vermis
, the area connecting the two lobes of the cerebellum, which appears as a distinct feature on axial section of MRI called the molar tooth sign (MTS) because it resembles the roots of a molar or wisdom tooth.
2] In non-alcoholic WE, the cerebellar vermis
, midbrain reticular formation and caudate nuclei are frequently involved.
There is severe hypogenesis of the cerebellar vermis
, enlarged, horizontal superior cerebellar peduncles, a small mid brain in the anteroposterior direction, and a "batwing" configuration of the mid-superior fourth ventricle (Figures 1 and 2).
Nate Trainor has Joubert Syndrome, a disorder that causes a brain abnormality of the cerebellar vermis
, which controls balance and coordination, according to the Joubert Syndrome & Related Disorder Foundation.
For example, mice exposed in utero to VPA can develop cardiovascular malformations, (9,10) limb defects, (11,12) skeletal malformations (13) and cerebellar abnormalities such as significantly fewer Purkinje cells in the cerebellar vermis
4 cm) in the superior half of the cerebellar vermis
Studies conducted in our laboratory showed that microinjection of histamine into the cerebellar vermis
impairs emotional memory consolidation in mice (9).
The nodulus was absent in the cerebellar vermis
and the fourth ventricle was enlarged.