Publications by authors named "Arjun Bal Kallupurakkal"
BMJ Case Rep
November 2023
Article Synopsis
- * Gordon Holmes syndrome, first described in 1908, is characterized by ataxia combined with hypogonadism and is linked to mutations in genes responsible for the ubiquitin-proteasome system.
- * The case report focuses on a 30-year-old male who exhibits symptoms like progressive ataxia, hypogonadotropic hypogonadism, cataracts, and brain abnormalities, ultimately revealing a mutation that confirms the diagnosis of Gordon Holmes syndrome.
