Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

• Main Authors: Zafar Ali (Author), Shumaila Zulfiqar (Author), Joakim Klar (Author), Johan Wikström (Author), Farid Ullah (Author), Ayaz Khan (Author), Uzma Abdullah (Author), Shahid Baig (Author), Niklas Dahl (Author)
• Format: Book
• Published: BMC, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cereb...