Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K Tofaris, Tabib Dabir, Patrick J Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw-Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel E Harrison, Gabriela Jones, Henry Houlden, Giorgia Ceravolo, Joanna Jarvis, Jonathan Williams, Morag E Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman-Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J M Blakes, Kay Metcalfe, Helen Kingston, Marta Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D Jones, Esther B E Becker, Andrea H Németh
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP3 ) receptor type 1 (IP3 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. The pathophysiological basis of the different phenotypes is poorly understood. OBJECTIVES: We aimed to identify novel SCA29 and GLSP cases to define core phenotypes, describe the spectrum of missense variation across ITPR1, standardize the ITPR1 variant nomenclature, and investigate disease progression in relation to cerebellar atrophy...
January 2024: Movement Disorders: Official Journal of the Movement Disorder Society