PRESSURE PALSY AS THE INITIAL PRESENTATION IN A CASE OF LATE-ONSET CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A

We report siblings of late-onset Charcot-Marie-Tooth disease type 1A ( CMT1A) of whom the elder brother presented with drop foot, DNA analysi s confirmed the 17p11.2-p12 duplication. Estimation of the age of onse t is difficult in CMT1A because of the subtle and slow progress of the symptoms, These cases are unique in that the initial clinical manifes tation was a pressure palsy in the brother and both siblings were quit e delayed in their clinical presentations, The peripheral myelin prote in-22 gene duplication is uniformly found in CMT1A patients, However, other factors influencing the disease manifestations are yet to be det ermined.