Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

Marchini, Corrado; Marsala, Sandro Zambito; Bendini, Matteo; Taioli, Federica; Damante, Giuseppe; Lonigro, Incoronata Renata; Fabrizi, Gian Maria

doi:10.1016/j.nmd.2009.09.004

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Volume 19, Issue 12 , Pages 849-852, December 2009

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

Corrado Marchini
- Department of Neurology San Martino’s Hospital, Belluno, Italy
Sandro Zambito Marsala
- Department of Neurology San Martino’s Hospital, Belluno, Italy
Matteo Bendini
- Department of Neuroradiology Ca’Foncello Hospital Treviso, Italy
Federica Taioli
- Department of Biomedical Sciences and Technologies, Section of Genetics, Genetic Institute, Azienda Ospedaliera Universitaria, Udine, Italy
Giuseppe Damante
- Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Ospedale Policlinico “G.B. Rossi”, Italy
Incoronata Renata Lonigro
- Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Ospedale Policlinico “G.B. Rossi”, Italy
Gian Maria Fabrizi
- Department of Biomedical Sciences and Technologies, Section of Genetics, Genetic Institute, Azienda Ospedaliera Universitaria, Udine, 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.

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.