Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of adult polyglucosan bodies disease (OMIM 263570)....

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Bibliographic Details
Main Authors: Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.791

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https://doi.org/10.1002/acn3.791

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