Abstract
BackgroundJoubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized.MethodsWe performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years.ResultsThey all exhibited impaired motor control, global developmental delay most evident in executive function, affect regulation, and social skill set, and similar patterns of neuropsychiatric symptoms.ConclusionsThese findings provide new insights into the intellectual and neurobehavioral phenotype of JS, which we regard as a developmental form of the cerebellar cognitive affective / Schmahmann syndrome (CCAS). These observations have direct clinical relevance for the diagnosis and care of patients with JS, and they help further the understanding of the multiple manifestations of atypical cerebrocerebellar development.
Highlights
Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem, and clinically by impaired motor functions and intellectual disability
Cases 1 and 2 had wide-based gait with pronation; case 3 had a narrowbased gait with occasional scissoring, and extra steps to turn accompanied by rolling movements of his neck and upper torso
Cognitive and neuropsychiatric phenotype in three brothers with JS
Summary
Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Joubert syndrome (JS) is an autosomal recessively inherited genetic disorder caused by ten currently known genes. It occurs with a 2:1 male to female ratio, and is characterized by unique morphological, systemic, and neurological manifestations [1]. Hypoplasia or malformation of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and abnormally deep interpeduncular fossa and enlarged fourth ventricle [2] together constitute the pathognomonic molar tooth sign in axial (horizontal) sections on brain imaging (Fig. 1). The neurology of JS is usually defined by oculomotor apraxia, Departments of Psychiatry, Massachusetts General Hospital, Boston, MA
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