Topic: spastic paraplegia

ePoster: 2 ePosters

The GRID1/GLUD1 homozygous variant p.Arg161His linked to intellectual disability and spastic paraplegia impairs excitatory synaptic transmission in the hippocampus

Weixuan Xue, Suzy Markossian, Frédéric Flamant, Bertrand Lambolez, Régine Hepp, Ludovic Tricoire · FENS Forum 2024

The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is widely expressed in the nervous system and is involved in the formation, function, and plasticity of synapses. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allows the formation of trans-synaptic bridges, and triggers transmembrane signaling. We recently reported a homozygous missense variants of GRID1, p.Arg161His, associated with combined intellectual disability, spastic paraplegia and glaucoma. In vitro studies revealed that this mutation hampers metabotropic glutamate receptor mGlu1/5 s

ePoster · Neuroscience

Understanding the pathogenic mechanisms underlying a rare genetic form of hereditary spastic paraplegia (aka SINO syndrome) caused by mutations in the KIDINS220 gene

Alicja Krawczun-Rygmaczewska, Matteo Rossi Sebastiano, Filippo Santorelli, Giulia Caron, Giuseppe Ermondi, Fabio Benfenati, Fabrizia Cesca · FENS Forum 2024

SINO is a newly described syndrome characterized by Spastic paraplegia, Intellectual Disability, Nystagmus and Obesity, caused by heterozygous mutations in the KIDINS220 gene. KIDINS220 (kinase D interacting substrate of 220kDa) is a multi-functional scaffold protein abundantly expressed across the nervous system that participates in neural cell survival, maturation and plasticity. In our work, we study the physiopathology of KIDINS220 mutations following three parallel approaches. (i) We examined the molecular effects of KIDINS220 mutations in HEK293T and primary neurons. Immunocytochemistry

ePoster · Neuroscience