TY - JOUR T1 - Optinurin inclusions in proximal hereditary motor and sensory neuropathy (HMSN-P): familial amyotrophic lateral sclerosis with sensory neuronopathy? JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1299 LP - 1299 DO - 10.1136/jnnp-2011-301240 VL - 82 IS - 12 AU - Masanori Nakagawa Y1 - 2011/12/01 UR - http://jnnp.bmj.com/content/82/12/1299.abstract N2 - 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, mimicking the … ER -