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Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies
Description of a Large Family With This Association
Jordi Sanahuja, MD;
Elena Franco, MD;
Ricardo Rojas-García, MD;
Eduard Gallardo, PhD;
Onofre Combarros, MD;
Robert Begué, MD;
Pilar Granés, MD;
Isabel Illa, MD
Arch Neurol. 2005;62:1911-1914.
Objective To describe a large family with hereditary neuropathy with liability to pressure palsies associated with central nervous system demyelination.
Design We examined the 18 members of a pedigree. Genetic analysis was performed on 15 subjects, standard nerve conduction studies on 10 subjects, and brain magnetic resonance imaging studies on 8 subjects.
Results Hereditary neuropathy with liability to pressure palsies was confirmed in 9 patients of the pedigree. Brain magnetic resonance imaging findings showed multiple areas of demyelination in 6 of 6 affected members and were normal in 2 of 2 healthy relatives. Magnetic resonance imaging abnormalities were predominantly located in the subcortical frontal white matter. All patients had acute and recurrent nerve palsies, while clinical features of central nervous system involvement were not a characteristic of this pedigree.
Conclusions We demonstrate that this association, previously reported in sporadic cases, is not coincidental. Therefore, patients with hereditary neuropathy with liability to pressure palsies can present central nervous system white matter lesions, and the role of the PMP22 (peripheral myelin protein 22) gene deletion in the central nervous system should be further studied.
Author Affiliations: Departments of Neurology (Drs Sanahuja and Granés) and Neurophysiology (Dr Franco), Hospital Universitari Arnau de Vilanova, and Institut de Diagnòstic per la Imatge (Dr Begué), Lleida; Department of Neurology, Neuromuscular Unit and Laboratory of Experimental Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona (Drs Rojas-García, Gallardo, and Illa); and Department of Neurology, Hospital Universitario Marqués de Valdecilla, Santander (Dr Combarros), Spain.
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