{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:19Z","timestamp":1782927319984,"version":"3.54.5"},"reference-count":8,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1991,12,1]]},"DOI":"10.1136\/jnnp.54.12.1112","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"1112-1113","source":"Crossref","is-referenced-by-count":21,"title":["An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia."],"prefix":"10.1136","volume":"54","author":[{"given":"D","family":"Barnes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V P","family":"Misra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E P","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P K","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1212\/WNL.31.11.1453","article-title":"The clinical spectrum of hexosaminidase deficiency diseases","volume":"31","author":"Johnson, W.G.","year":"1981","unstructured":"Johnson WG. The clinical spectrum of hexosaminidase deficiency diseases. Neurology 1981;31:1453-56.","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1136\/jnnp.50.6.687","article-title":"Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome","volume":"50","author":"Harding, A.E.; Young, E.P.; Schon, F.","year":"1987","unstructured":"Harding AE, Young EP, Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry 1987;50:687-90.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/mus.880110307","article-title":"Hexosaminidase A activity and amyotrophic lateral sclerosis","volume":"11","author":"Gudesblatt, M.; Ludman, M.D.; Cohen, J.A.","year":"1988","unstructured":"Gudesblatt M, Ludman MD, Cohen JA, et al. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve 1988;11:227-30.","journal-title":"Muscle Nerve"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jnnp.51.3.446","article-title":"Hexosaminidase A deficiency presenting as juvenile progressive dystonia","volume":"51","author":"Hardie, R.J.; Young, E.P.; Morgan-Hughes, J.A.","year":"1988","unstructured":"Hardie RJ, Young EP, Morgan-Hughes JA. Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry 1988;51:446.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1212\/WNL.40.1.145","article-title":"The juvenile and chronic forms of GM, gangliosidosis","volume":"40","author":"Specola, N.; Vanier, M.T.; Goutieres, F.; Mikol, J.; Aicardi, J.","year":"1990","unstructured":"Specola N, Vanier MT, Goutieres F, Mikol J, Aicardi J. The juvenile and chronic forms of GM, gangliosidosis. Neurology 1990;40:145-50.","journal-title":"Neurology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/ajmg.1320240123","article-title":"Hexosaminidase A deficiency in adults","volume":"24","author":"Navon, R.; Argov, Z.; Frisch, A.","year":"1986","unstructured":"Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am JMed Genet 1986;24:179-96.","journal-title":"Am JMed Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1093\/brain\/108.4.897","article-title":"Qualitative and quantitative morphometry ofhuman sural nerve at different ages","volume":"108","author":"Jacobs, J.M.; Love, S.","year":"1985","unstructured":"Jacobs JM, Love S. Qualitative and quantitative morphometry ofhuman sural nerve at different ages. Brain 1985;108:897-924.","journal-title":"Brain"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/ana.410170413","article-title":"Motor neuron disease and adult hexosarninidase A deficiency in two families: evidence for multisystem degeneration","volume":"17","author":"Mitsumoto, H.; Sliman, R.J.; Schafer, I.A.","year":"1985","unstructured":"Mitsumoto H, Sliman RJ, Schafer IA, et al. Motor neuron disease and adult hexosarninidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol 1985;17:378-85.","journal-title":"Ann Neurol"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.54.12.1112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:35:53Z","timestamp":1601087753000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.54.12.1112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,1]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[1991,12,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.54.12.1112","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1991,12,1]]}}}