{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:32:11Z","timestamp":1759336331622},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:sec>\n            <jats:title>Abstract<\/jats:title>\n            <jats:p>Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disorder inherited in an autosomal dominant fashion. Patients present with slowly progressive proximal-predominant weakness, painful muscle cramps, fasciculations, large-fiber sensory loss, and areflexia. Electrodiagnostic (EDX) studies typically reveal abnormalities consistent with a sensorimotor neuronopathy. A patient with HMSN-P underwent EDX studies, revealing ongoing and chronic neurogenic denervation, motor unit instability, and neuromyotonic discharges, further defining the spectrum of EDX findings in HMSN-P. The clinical, pathological, and genetic features are also reviewed. The appearance of HMSN-P in the United States and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/cnd.0b013e318286165a","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T18:43:51Z","timestamp":1369334631000},"page":"180-183","update-policy":"http:\/\/dx.doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Hereditary Motor and Sensory Neuropathy With Proximal Predominance (HMSN-P)"],"prefix":"10.1097","volume":"14","author":[{"given":"Joseph V.","family":"Campellone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-4-20240808","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ana.410410613","article-title":". A new type of hereditary motor and sensory neuropathy linked to chromosome 3.","volume":"41","author":"Takashima","year":"1997","journal-title":"Ann Neurol"},{"key":"R2-4-20240808","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1111\/j.1749-6632.1999.tb08607.x","article-title":". Hereditary motor and sensory neuropathy with proximal dominant involvement: clinical, pathological, and genetic features.","volume":"883","author":"Nakagawa","year":"1999","journal-title":"Ann N Y Acad Sci"},{"key":"R3-4-20240808","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1007\/s10038-007-0193-7","article-title":". Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.","volume":"52","author":"Maeda","year":"2007","journal-title":"J Hum Genet"},{"key":"R4-4-20240808","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.clineuro.2007.07.015","article-title":". Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry.","volume":"109","author":"Maeda","year":"2007","journal-title":"Clin Neurol Neurosurg"},{"key":"R5-4-20240808","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1590\/S0004-282X2009000500021","article-title":". Autosomal dominant HMSN with proximal involvement: new Brazilian cases.","volume":"67","author":"Patroclo","year":"2009","journal-title":"Arq Neuropsiquiatr"},{"key":"R6-4-20240808","first-page":"1299","article-title":"Optinurin inclusions in proximal hereditary motor and sensory neuropathy (HMSN-P): familial amyotrophic lateral sclerosis with sensory neuronopathy J Neurol Neurosurg Psychiatry.","volume":"82","author":"Nakagawa","year":"2011","journal-title":""},{"key":"R7-4-20240808","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1136\/jnnp-2011-300783","article-title":". Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy.","volume":"82","author":"Fujita","year":"2011","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R8-4-20240808","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0960-8966(99)00021-8","article-title":". Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.","volume":"9","author":"Takashima","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"R11-4-20240808","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ajhg.2012.07.014","article-title":". The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.","volume":"91","author":"Ishiura","year":"2012","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00131402-201306000-00004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T23:10:57Z","timestamp":1723158657000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00131402-201306000-00004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e318286165a","relation":{},"ISSN":["1522-0443"],"issn-type":[{"type":"print","value":"1522-0443"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}