Niemann Pick Type C Presenting as Familial Late‐Onset Richardson Syndrome. A Case Series of Four Siblings

Puntos clave

• To investigate the presentation of late-onset Niemann Pick Type C (NP-C) in four siblings and its mimicry of Richardson syndrome.
• Case series of four siblings with late-onset NP-C symptoms
• Genetic analysis for NPC-1 gene mutations
• Clinical evaluation of Richardson syndrome characteristics
• All four siblings exhibit late-onset symptoms similar to Richardson syndrome
• Identified the c.2861C>T mutation in the NPC-1 gene in each case
• Symptoms included motor dysfunction and cognitive decline