{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T07:37:53Z","timestamp":1788593873378,"version":"build-2803163510"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare degenerative disorder inherited in an autosomal dominant fashion. This disease was described first in Japanese descendants from Okinawa and Shiga prefectures in mainland Honshu in 1997. The disease is characterized by adult onset of proximal weakness and atrophy, muscle cramps, fasciculations, areflexia, high incidence of elevated creatine kinase, hyperlipidemia, and diabetes mellitus, resembling Kennedy disease, though the mode of inheritance is autosomal dominant, rather than X linked. We examined a 56-year-old male patient with clinical features suggestive of HMSN-P and positive family history in an autosomal dominant fashion. Clinical, electrophysiological, and genetic factors were also reviewed. The appearance of HMSN-P in India 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":"10.4103\/0028-3886.349586","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T03:55:57Z","timestamp":1692849357000},"page":"1220-1222","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation"],"prefix":"10.4103","volume":"70","author":[{"given":"Afroz F.","family":"Ansari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamlesh","family":"Jagiasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan","family":"Ojha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raahil","family":"Ansari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shashank","family":"Nagendra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumit","family":"Kharat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-67-20241013","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: Public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"R2-67-20241013","doi-asserted-by":"crossref","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online Mendelian Inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"R3-67-20241013","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":"R4-67-20241013","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":"R5-67-20241013","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1002\/ajmg.a.61184","article-title":"Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation","volume":"179","author":"Khani","year":"2019","journal-title":"Am J Med Genet A"},{"key":"R6-67-20241013","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":"R7-67-20241013","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 Psychiatr"},{"key":"R8-67-20241013","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/ncb2225","article-title":"TFG-1 function in protein secretion and oncogenesis","volume":"13","author":"Witte","year":"2011","journal-title":"Nat Cell Biol"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.349586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:18:18Z","timestamp":1787836698000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.349586"}},"subtitle":["First Case Report from India"],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.349586","relation":{},"ISSN":["0028-3886"],"issn-type":[{"value":"0028-3886","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5]]}}}