Vol 46, No 4 (2012)

open access

Page views 366
Article views/downloads 867
Get Citation

Connect on Social Media

Connect on Social Media

Joubert syndrome and related disorders

Justyna Paprocka1, Ewa Jamroz1
DOI: 10.5114/ninp.2012.30457
Neurol Neurochir Pol 2012;46(4):379-383.

Abstract

The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.

Article available in PDF format

View PDF Download PDF file



Neurologia i Neurochirurgia Polska