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References
Miravalle L, Calero M, Takao M, Roher AE, Ghetti B, Vidal R (2005) Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques. Biochemistry 44:10810–10821
Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P (2001) Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57:621–625
Jiménez Caballero PE, Lladó A, de Boguna Diego C, Martin Correa E, Serviá Candela M, Marsal Alonso C (2008) A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer’s disease and spastic paraparesis. Eur J Neurol 15:991–994
Barrett AM (1913) A case of Alzheimer’s disease with unusual neurological disturbances. J Nerv Ment Dis 40:361–374
Ryan NS, Rossor MN (2010) Correlating familial Alzheimer’s disease gene mutations with clinical phenotype. Biomark Med 4:99–112
Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M (2000) Variant Alzheimer’s disease with spastic paraparesis: clinical characterization. Neurology 54:1103–1109
Karlstrom H, Brooks WS, Kwok JB, Broe GA, Kril JJ, McCann H, Halliday GM, Schofield PR (2008) Variable phenotype of Alzheimer’s disease with spastic paraparesis. J Neurochem 104:573–583
Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M (2001) Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 60:483–492
Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T (2000) Variant Alzheimer’s disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Ann Neurol 48:806–808
Lopera F, Ardilla A, Martínez A, Madrigal L, Arango-Viana JC, Lemere CA, Arango-Lasprilla JC, Hincapíe L, Arcos-Burgos M, Ossa JE, Behrens IM, Norton J, Lendon C, Goate AM, Ruiz-Linares A, Rosselli M, Kosik KS (1997) Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 277:793–799
Frisoni GB, Pievani M, Testa C, Sabattoli F, Bresciani L, Bonetti M, Beltramello A, Hayashi KM, Toga AW, Thompson PM (2007) The topography of grey matter involvement in early and late onset Alzheimer’s disease. Brain 130:720–730
Pettersen JA, Patry DG, St George-Hyslop PH, Curry B (2011) Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation. Can J Neurol Sci 38:659–661
Ticozzi N, Tiloca C, Calini D, Gagliardi S, Altieri A, Colombrita C, Cereda C, Ratti A, Pezzoli G, Borroni B, Goldwurm S, Padovani A, Silani V (2014) C9orf72 repeat expansions are restricted to the ALS-FTD spectrum. Neurobiol Aging 35:936.e13–936.e17
Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M (2009) Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. Neurology 73:378–384
Tremolizzo L, Patassini M, Uziel G, Castellotti B, Gellera C, Ferrarese C, Appollonio I (2013) Granny trips down: is she carrying the big bad wolf? Neurol Sci 34:2077–2079
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Tremolizzo, L., Susani, E., Binda, D. et al. Forgetful and robotic: tap on a gene!. Neurol Sci 37, 1185–1187 (2016). https://doi.org/10.1007/s10072-014-2059-z
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DOI: https://doi.org/10.1007/s10072-014-2059-z