CGG repeat expansions in LRP12 as a cause of motor-dominant axonal inherited peripheral neuropathies: A study of 60 Japanese cases

Key Points

• Motor-dominant axonal inherited peripheral neuropathies are linked to CGG repeat expansions.
• In a study of 60 individuals, CGG repeat expansions were identified as a significant genetic factor.
• This retrospective analysis highlights the role of lrp12 in axonal pathways and neuropathy progression.
• The findings underscore the importance of genetic screening for earlier diagnosis and management of these conditions.