Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy
Received 18 May 2009; received in revised form 14 August 2009; accepted 8 September 2009.
Abstract
The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot–Marie–Tooth disease type 1B (CMT1B). Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. Two sisters aged 41 and 35years complained of neck pain and presented only pes cavus or deep-tendon hyporeflexia. In both of them magnetic resonance imaging revealed non-enhancing hypertrophy of spinal roots misdiagnosed as neurofibromatosis; neurophysiology disclosed a demyelinating neuropathy and addressed the correct molecular diagnosis. This report adds new data concerning the clinical presentations of MPZ mutations.
aDepartment of Neurology San Martino’s Hospital, Belluno, Italy
bDepartment of Neuroradiology Ca’Foncello Hospital Treviso, Italy
cDepartment of Biomedical Sciences and Technologies, Section of Genetics, Genetic Institute, Azienda Ospedaliera Universitaria, Udine, Italy
dDepartment of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Ospedale Policlinico “G.B. Rossi”, Italy
Corresponding author. Address: Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona. Ospedale Policlinico G.B. Rossi, P.le L.A. Scuro 10, 37134 Verona, Italy. Tel.: +39 045 8124286; fax: +39 045 8027492.
ABSTRACT