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.
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies / Canali, Elena; Chiari, Annalisa; P., Sola; Fioravanti, Valentina; F., Valzania; R., Pentore; Nichelli, Paolo Frigio; Mandrioli, Jessica. - In: AMYOTROPHIC LATERAL SCLEROSIS. - ISSN 1748-2968. - STAMPA. - 11:(2010), pp. 335-336. [10.3109/17482960902964440]
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies
CANALI, Elena;CHIARI, Annalisa;FIORAVANTI, Valentina;NICHELLI, Paolo Frigio;MANDRIOLI, Jessica
2010-01-01
Abstract
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.
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