History of Joubert Syndrome and a 30-Year Follow-Up of the Original Proband

Abstract

The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-recessive syndrome eponimically associated with the senior author, Marie Joubert. The disorder, though rare, is increasingly recognized and a lay society dedicated to family support and research has been formed. In preparation for a recent symposium the original proband was re-examined 30 years later and the manifestations in adults clarified. Severe dysarthria was the most striking feature in this man, the hyperpnea-apnea had diminished, and the abnormal eye movements were less striking. Ataxia was still present but not severe. Poor judgment and borderline intelligence rounded out the clinical picture. Modern imaging has clarified, in part, the anatomic basis of this syndrome.

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

“…This observation prompted MRI analysis of the first patients to be reported by Dr. Marie Joubert to determine if the MTS was part of the syndrome, because the initial clinical description was before the availability of MRI. These patients displayed the MTS, providing evidence that it is a cardinal feature of the syndrome [Andermann et al, 1999]. However, it remains unclear whether the MTS is pathognomonic of JS or a component of other syndromes that may overlap with JS.…”

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

“…In 1969, Dr. Marie Joubert published a case series of patients with agenesis of the cerebellar vermis, ataxia, oculomotor apraxia, respiratory abnormalities, and mental retardation 1, 2. Subsequently, more than 100 cases of Joubert syndrome (JS) have been reported 3.…”

Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization, Attractors and Evolutionary Perspectives

“…In DES, the patients had no speech, or dysarthric speech with limited vocabulary (Schurig et al, 1981;Glass et al, 2005;Boycott et al, 2005;Moheb et al, 2008;Mehlberg et al, 2011). In Joubert syndrome, speech was also dysarthric, but pseudobulbar in origin, despite the interpretation as a cerebellar and brainstem dysfunction (Andermann et al, 1999;Braddock, 2006). These results suggest that speech is either absent or dysarthric in all of these closely related syndromes.…”