Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies.
We describe the rare case of a young woman with hereditary neuropathy with liability to compression palsy (HNPP), who developed a rapidly progressive ALS. We suggest that underexpression of PMP22 protein in the nervous system might interfere with motor neuron function by impairing myelin formation and exposure of the axon to injury. Patients with ALS and evidence of demyelination should be screened for HNPP.
Canali
Elena
E
Department of Neuroscience, University of Modena and Reggio Emilia, Nuovo Ospedale Civile S. Agostino Estense, Modena, Italy.
Chiari
Annalisa
A
Sola
Patrizia
P
Fioravanti
Valentina
V
Valzania
Franco
F
Pentore
Roberta
R
Nichelli
Paolo
P
Mandrioli
Jessica
J
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002886:Chromosomes, Human, Pair 17; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009185:Myelin Proteins / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D010243:Paralysis / Q000209:etiology*; D011312:Pressure
D009185:Myelin Proteins; C073687:PMP22 protein, human