{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:40Z","timestamp":1791098800671,"version":"4.1.0"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1992,1,1]],"date-time":"1992-01-01T00:00:00Z","timestamp":694224000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[1992,1]]},"DOI":"10.1007\/bf00308479","type":"journal-article","created":{"date-parts":[[2004,10,10]],"date-time":"2004-10-10T10:35:49Z","timestamp":1097404549000},"page":"196-201","source":"Crossref","is-referenced-by-count":16,"title":["Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous"],"prefix":"10.1007","volume":"83","author":[{"given":"F.","family":"Gemignani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Guidetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Preda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cenacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Marbini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1136\/jnnp.43.11.962","volume":"43","author":"A Abdallat","year":"1980","unstructured":"Abdallat A, Davis SM, Farrage J, MacDonald WJ (1980) Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J Neurol Neurosurg Psychiatry 43:962?966","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jnnp.37.1.8","volume":"37","author":"WMH Behan","year":"1974","unstructured":"Behan WMH, Maia M (1974) Str\u00fcmpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37:8?20","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/brain\/100.1.67","volume":"100","author":"F Behse","year":"1977","unstructured":"Behse F, Buchthal F (1977) Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nervers. Brain 100:67?85","journal-title":"Brain"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/brain\/113.2.347","volume":"113","author":"M Ben Hamida","year":"1990","unstructured":"Ben Hamida M, Hentati F, Ben Hamida C (1990) Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain 113:347?363","journal-title":"Brain"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1212\/WNL.37.6.910","volume":"37","author":"R-MN Boustany","year":"1987","unstructured":"Boustany R-MN, Fleischnick E, Alper Ca, Marazita ML, Spence MA Martin JB, Kolodny EH (1987) The autosomal dominant form of ?pure? familial spastic paraplegia: clinical findings and linkage analyses of a large pedigree. Neurology 37:910?915","journal-title":"Neurology"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1093\/brain\/102.1.79","volume":"102","author":"NPC Cavanagh","year":"1979","unstructured":"Cavanagh NPC, Eames RA, Galvin RJ, Brett EM, Kelly RE (1979) Hereditary sensory neuropathy with paraplegia. Brain 102:79?84","journal-title":"Brain"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ana.410280109","volume":"28","author":"D Claus","year":"1990","unstructured":"Claus D, Waddy HM, Harding AE, Murray NMF, Thomas PK (1990) Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol 28:43?49","journal-title":"Ann Neurol"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1212\/WNL.40.9.1450","volume":"40","author":"JC Defesche","year":"1990","unstructured":"Defesche JC, Hoogendijk JE, de Visser M, Ongerboer de Visser BW, Bolhuis PA (1990) Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17. Neurology 40:1450?1453","journal-title":"Neurology"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/0022-510X(88)90221-3","volume":"88","author":"M Visser de","year":"1988","unstructured":"de Visser M, de Visser BWO, Verjaal M (1988) Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family. J Neurol Sci 88:241?246","journal-title":"J Neurol Sci"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jnnp.45.1.46","volume":"45","author":"MR Dimitrijevic","year":"1982","unstructured":"Dimitrijevic MR, Lenman JAR, Prevec T, Wheatley K (1982) A study of posterior column function in familial spastic paraplegia. J Neurol Neurosurg Psychiatry 45:46?49","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR11","first-page":"1600","volume-title":"Peripheral neuropathy","author":"PJ Dyck","year":"1984","unstructured":"Dyck PJ (1984) Inherited neuronal degeneration and atrophy affecting motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds) Peripheral neuropathy, 2nd edn. Saunders, Philadelphia, pp 1600?1642","edition":"2nd edn."},{"key":"CR12","first-page":"19","volume":"18","author":"PJ Dyck","year":"1968","unstructured":"Dyck PJ, Lambert EH (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch Neurol 18:19?625","journal-title":"Arch Neurol"},{"key":"CR13","first-page":"760","volume-title":"Peripheral neuropathy","author":"PJ Dyck","year":"1984","unstructured":"Dyck PJ, Karnes JL, Lais AC, Lofgren EP, Stevens JC (1984) Pathologic alterations of the peripheral nervous system of humans. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds) Peripheral neuropathy, 2nd edn. Saunders, Philadelphia, pp 760?870","edition":"2nd edn."},{"key":"CR14","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1136\/jnnp.13.2.130","volume":"13","author":"HG Garland","year":"1950","unstructured":"Garland HG, Astley CE (1950) Hereditary spastic paraplegia with amyotrophy and pes cavus. J Neurol Neurosurg Psychiatry 13:130?133","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jnnp.45.8.669","volume":"45","author":"RJ Guiloff","year":"1982","unstructured":"Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM (1982) Linkage of autosomal dominant type 1 hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. J Neurol Neurosurg Psychiatry 45:669?674","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jnnp.44.10.871","volume":"44","author":"AE Harding","year":"1981","unstructured":"Harding AE (1981) Hereditary ?pure? spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44:871?883","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"I","author":"AE Harding","year":"1983","unstructured":"Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet I:1151?1155","journal-title":"Lancet"},{"key":"CR18","volume-title":"The hereditary ataxias and related disorder","author":"AE Harding","year":"1984","unstructured":"Harding AE (1984) The hereditary ataxias and related disorder. Churchill Livingstone, Edinburgh"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jnnp.47.2.168","volume":"47","author":"AE Harding","year":"1984","unstructured":"Harding AE, Thomas PK (1984) Peroneal muscular atrophy with pyramidal features. J Neurol Neurosurg Psychiatry 47:168?172","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1212\/WNL.13.5.405","volume":"13","author":"RR Khalifeh","year":"1963","unstructured":"Khalifeh RR, Zellweger H, (1963) Hereditary sensory neuropathy with spinal cord disease. Neurology 13:405?411","journal-title":"Neurology"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/j.1469-8749.1970.tb01965.x","volume":"12","author":"RH Koenig","year":"1970","unstructured":"Koenig RH, Spiro AJ (1970) Hereditary spastic paraparesis with sensory neuropathy. Dev Med Child Neurol 12:576?581","journal-title":"Dev Med Child Neurol"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/BF00690549","volume":"47","author":"G Krinke","year":"1979","unstructured":"Krinke G, Schaumburg H, Spencer PS, Thomann P, Hess R (1979) Clioquinol and 2,5 hexanedione produce different types of distal axonopathy: a comparative experimental study in the dog. Acta Neuropathol (Berl) 47:213?221","journal-title":"Acta Neuropathol (Berl)"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1136\/jnnp.50.10.1342","volume":"50","author":"KD MacDermot","year":"1987","unstructured":"MacDermot KD, Walker RWH (1987) Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. J Neurol Neurosurg Psychiatry 50:1342?1347","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00688132","volume":"67","author":"A Marbini","year":"1985","unstructured":"Marbini A, Gemignani F, Ferrarini G, Maccari S, Lucci B, Bragaglia MM, Plancher C, Vergani C (1985) Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. Acta Neuropatho (Berl), 67:121?127","journal-title":"Acta Neuropatho (Berl)"},{"key":"CR25","first-page":"113","volume":"41","author":"A Marbini","year":"1985","unstructured":"Marbini A, Gemignani F, Rustichelli P, Pavesi G, Bragaglia M (1985) Nerve biopsy findings in two patients with heredoataxia ?plus?. Acta Neurol 41:113?114","journal-title":"Acta Neurol"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1093\/brain\/94.4.703","volume":"94","author":"JG McLeod","year":"1971","unstructured":"McLeod JG, Prineas JW (1971) Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies. Brain 94:703?714","journal-title":"Brain"},{"key":"CR27","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jnnp.40.6.611","volume":"40","author":"JG McLeod","year":"1977","unstructured":"McLeod JG, Morgan JA, Reye C (1977) Electrophysiological studies in familial spastic paraplegia. J Neurol Neurosurg Psychiatry 40:611?615","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1212\/WNL.39.3.390","volume":"39","author":"SI Mellgren","year":"1989","unstructured":"Mellgren SI, Conn DL, Stevens JC, Dyck PJ (1989) Peripheral neuropathy in primary Sj\u00f6gren's syndrome. Neurology 39:390?394","journal-title":"Neurology"},{"key":"CR29","first-page":"92","volume":"46","author":"HR Middleton-Price","year":"1990","unstructured":"Middleton-Price HR, Harding AE, Monteiro C, Berciano J, Malcolm S (1990) Linkage of hereditary motor and sensory neuropathy type I to the pericentric region of chromosome 17. Am J Hum Genet 46:92?94","journal-title":"Am J Hum Genet"},{"key":"CR30","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000115557","volume":"22","author":"M Pag\u00e8s","year":"1983","unstructured":"Pag\u00e8s M, Pag\u00e8s A-M (1983) Leber's disease with spastic paraplegia and peripheral neuropathy. Case report with nerve biopsy study. Eur Neurol. 22:181?185","journal-title":"Eur Neurol"},{"key":"CR31","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/0013-4694(81)90057-2","volume":"52","author":"L Pedersen","year":"1981","unstructured":"Pedersen L, Trojaborg W (1981) Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. Electroencephalogr Clin Neurophysiol 52:283?287","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"CR32","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/brain\/113.3.709","volume":"113","author":"W Schady","year":"1990","unstructured":"Schady W, Sheard A (1990) A quantitative study of sensory function in hereditary spastic paraplegia. Brain 113:709?720","journal-title":"Brain"},{"key":"CR33","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1600-0404.1990.tb04484.x","volume":"82","author":"P Scheltens","year":"1990","unstructured":"Scheltens P, Bruyn RPM, Hazenberg GJ (1990) A Dutch family with autosomal dominant pure spastic paraparesis (Str\u00fcmpell's disease) Acta Neurol Scand 82:169?173","journal-title":"Acta Neurol Scand"},{"key":"CR34","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1001\/archneurpsyc.1952.02320230081010","volume":"68","author":"GA Schwarz","year":"1952","unstructured":"Schwarz GA (1952) Hereditary (familial) spastic paraplegia. Arch Neurol Psychiatry 68:655?682","journal-title":"Arch Neurol Psychiatry"},{"key":"CR35","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1001\/archneurpsyc.1956.02330200038005","volume":"75","author":"GA Schwarz","year":"1956","unstructured":"Schwarz GA, Liu CN (1956) Hereditary familial spastic paraplegia. Further clinical and pathologic observations. Arch Neurol Psychiatry 75:144?162","journal-title":"Arch Neurol Psychiatry"},{"key":"CR36","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/BF02337442","volume":"11","author":"M Serena","year":"1990","unstructured":"Serena M, Rizzuto N, Moretto G, Arrigoni G (1990) Familial spastic paraplegia with peroneal amyotrophy. A family with hypersensitivity to pyrexia. Ital J Neurol Sci 11:583?588","journal-title":"Ital J Neurol Sci"},{"key":"CR37","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1212\/WNL.32.10.1186","volume":"32","author":"H Shibasaki","year":"1982","unstructured":"Shibasaki H, Kagigi R, Ohnishi A, Kuroiwa Y (1982) Peripheral and central nerve conduction in subacute myelo-optic neuropathy. Neurology 32:1186?1188","journal-title":"Neurology"},{"key":"CR38","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1469-1809.1966.tb00007.x","volume":"30","author":"JR Silver","year":"1966","unstructured":"Silver JR (1966) Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet 30:69?75","journal-title":"Ann Hum Genet"},{"key":"CR39","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF02172796","volume":"17","author":"A Str\u00fcmpell","year":"1886","unstructured":"Str\u00fcmpell A (1886) \u00dcber eine bestimmte Form der prim\u00e4ren kombinierten Systemkrankung des R\u00fcckenmarks. Arch Psychiatr Nervenkr 17:227?238","journal-title":"Arch Psychiatr Nervenkr"},{"key":"CR40","first-page":"S117","volume":"5","author":"PK Thomas","year":"1982","unstructured":"Thomas PK (1982) Selective vulnerability of the centrifugal and centripetal axons of primary sensory neurons. Muscle Nerve 5:S117-S121","journal-title":"Muscle Nerve"},{"key":"CR41","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1136\/jnnp.44.3.243","volume":"44","author":"PK Thomas","year":"1981","unstructured":"Thomas PK, Jefferys JGR, Smith IS, Loulakis D (1981) Spinal somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 44:243?246","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR42","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ana.410150402","volume":"15","author":"PK Thomas","year":"1984","unstructured":"Thomas PK, Schaumburg HH, Spencer PS, Kaeser HE, Pallis CA, Clifford Rose F, Wadia NH (1984) Central distal axonopathy syndromes: newly recognized models of naturally occurring human degenerative diseases Ann Neurol 15:313?315","journal-title":"Ann Neurol"},{"key":"CR43","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0022-510X(84)90032-7","volume":"64","author":"PK Thomas","year":"1984","unstructured":"Thomas PK, Workman JM, Thage O (1984) Behr's syndrome. A family exhibiting pseudodominant inheritance. J Neurol Sci 64:137?148","journal-title":"J Neurol Sci"},{"key":"CR44","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1001\/archneur.1979.00500400090017","volume":"36","author":"G Tredici","year":"1979","unstructured":"Tredici G, Minoli G (1979) Peripheral nerve involvement in familial spastic paraplegia. Arch Neurol 36:236?239","journal-title":"Arch Neurol"},{"key":"CR45","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/0013-4694(87)90182-9","volume":"66","author":"A Uncini","year":"1987","unstructured":"Uncini A, Treviso M, Basciani M, Gambi D (1987) Str\u00fcmpell familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy. Electroencephalogr Clin Neurophysiol 66:132?136","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"CR46","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1148\/35.2.160","volume":"35","author":"C Epps Van","year":"1940","unstructured":"Van Epps C, Kerr HD (1940) Familial lumbosacral syringomyelia. Radiology 35:160?173","journal-title":"Radiology"},{"key":"CR47","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jnnp.48.3.266","volume":"48","author":"EM Gent Van","year":"1985","unstructured":"Van Gent EM, Hoogland RA, Jennekens FGI (1985) Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. J Neurol Neurosurg Psychiatry 48:269","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"CR48","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1212\/WNL.35.8.1140","volume":"35","author":"A Wichman","year":"1985","unstructured":"Wichman A, Buchthal F, Pezeshkpour GH, Fauci AS (1985) Peripheral neuropathy in hypereosinophilic syndrome. Neurology 35:1140?1145","journal-title":"Neurology"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00308479.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00308479\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00308479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T20:53:40Z","timestamp":1554756820000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00308479"}},"subtitle":["Report of nerve biopsy in four cases and review of the literature"],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["BF00308479"],"URL":"https:\/\/doi.org\/10.1007\/bf00308479","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}