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Optinurin inclusions in proximal hereditary motor and sensory neuropathy (HMSN-P): familial amyotrophic lateral sclerosis with sensory neuronopathy?
  1. Masanori Nakagawa
  1. Correspondence to Dr M Nakagawa, Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, Kyoto 602-0841, Japan; mnakagaw{at}koto.kpu-m.ac.jp

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Proximal hereditary motor and sensory neuropathy (HMSN-P) is an autosomal dominant neuromuscular disease with sensory symptoms that was first described in patients from Okinawa, a southern archipelago in Japan.1 The clinical features of HMSN-P include proximal dominant neurogenic atrophy with fasciculations, painful muscle cramp, sensory involvement and areflexia. Serum levels of creatine kinase are elevated and patients have a higher incidence of hyperlipidaemia and diabetes mellitus. The electrophysiological findings are consistent with motor and sensory axonal neuropathy. On neuropathological investigation, the sensorimotor neuronopathy is the cardinal feature in HMSN-P. However, brainstem pathology has yet to be elucidated.

HMSN-P is a slowly progressive intractable disease and some patients eventually require a tracheostomy with artificial ventilation, …

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