This website provides information on patients with mutations in the FIG4 phosphoinositide 5-phosphatase (FIG4) gene, including clinical data, molecular data, management and research options.
The syndromes caused by mutations in the FIG4 gene are four multisystem disorders called Bilateral temporooccipital polymicrogyria (BTOP), Amyotrophic lateral sclerosis 11 (ALS11), Charcot-Marie-Tooth disease, type 4J (CMT4J), and Yunis-Varon syndrome (YVS).
BTOP is characterized by temporo-occipital polymicrogyria, epilepsy and psychiatric manifestations.
CMT4J is characterized by a severe and early onset form of Charcot-Marie-Tooth disease with sensory and motor neurons involvement.
ALS11 is a neurodegenerative disorder characterized by adult-onset corticospinal tract neurons death.
YVS is characterized by cleidocranial dysplasia, digital anomalies, and severe neurological involvement.
Not all individuals with a mutation in the FIG4 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FIG4 gene.
Philippe Campeau, MD, Centre Hospitalier Universitaire Sainte-Justine, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com
Éliane Beauregard-Lacroix, MD, University of Montreal, Montreal, Canada, firstname.lastname@example.org