Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy.
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 35 years 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.
Marchini
Corrado
C
Department of Neurology San Martino's Hospital, Belluno, Italy.
Marsala
Sandro Zambito
SZ
Bendini
Matteo
M
Taioli
Federica
F
Damante
Giuseppe
G
Lonigro
Incoronata Renata
IR
Fabrizi
Gian Maria
GM
D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D006984:Hypertrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D019547:Neck Pain / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D010375:Pedigree; D035781:Siblings; D013126:Spinal Nerve Roots / Q000473:pathology
D018993:Myelin P0 Protein