Prof Christos Proukakis

• Proukakis C , Shoaee M, Morris J, Brier T, Kara E, Sheerin UM, Charlesworth G, Tolosa E, Houlden H, Wood NW, Schapira AH.Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord 2014; epub doi: 10.1002/mds.25883.
• Kara E, Kiely A, Proukakis C, Giffin N, Love S, Hehir J, Pandraud A, Hernandez DG, Singleton AB, Revesz T, Quinn N, Hardy J, Holton JL, Houlden H. A 6MB duplication of the alpha-synuclein locus causing fronto-temporal dementia and parkinsonism. Neurology (in press)
• Proukakis C, Dudzik C, Brier T, MacKay D, Cooper JM, Houlden H, Schapira AH. A novel SNCA missense mutation in Parkinson’s disease. Neurology 2013; 80: 1062-4.
• Proukakis C, Houlden H., Schapira AH. Somatic SNCA mutations in Parkinson’s disease: hypothesis and preliminary data. Mov Disord 2013; 28:705-12. (viewpoint incl. research data)
• Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Mutations in B4GALNT1 underlie a new disorder of ganglioside biosynthesis. Brain 2013; 136:3618-24.
• Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL. a-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? Acta Neuropathol 2013; 125:753-69.
• Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J. ?-Synuclein mutations cluster around a putative protein loop. Neurosci Lett 2013; 28:705-12.
• McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, Hardy J, Wood NW, Schapira AH. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012;27:526-32.
• Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J Neurol Sci. 2011;306:62-5.
• Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010; 87:655-60.
• Dick KJ, Eckhardt M, Paisan-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia. Hum Mutat. 2010;31:E1251-60.
• Smith BN, Bevan S, Renwick P, Wilkinson P, Proukakis C, Squitieri F, Berardelli A, Warner TT, Reid E, Shaw CE. Four novel SPG3A/atlastin mutations identified in AD-HSP kindreds with intra-familial age of onset and complex phenotype. Clin Genet 75:485-9 (2009)
• Salinas S, Carazo-Salas RE*, Proukakis C* (* equal contributions), Cooper JM, Weston AE, Schiavo G, Warner TT. Human spastin has multiple microtubule-related functions. J Neurochem: 95, 1411–1420 (2005).
• Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Legenstein A, Malli R, Dierick I, Warner TT, Proukakis C, Van Den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genet: 36, 271-276 (2004).
• Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited: A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol: 254, 1105-1110 (2004).
• Warner TT, Patel H, Proukakis C, Bell R, Auer-Grumbach M, Windpassinger C, Wills A, Patton MA, Crosby AH. Locus heterogeneity and mutation analysis in Silver syndrome. J Neurol: 254, 1068-1075 (2004).
• Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DCA, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH. Infantile onset symptomatic epilepsy syndrome caused by a homozygous loss of function mutation in GM3 synthase. Nature Genet: 36, 1225-1229 (2004).
• Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson P, Reid E, Patton MA, Warner TT, Crosby AH. Screening of patients with hereditary spastic paraplegia reveals 7 novel mutations in the SPG4 (spastin) gene. Hum Mutat: 21, 170 (2003).
• Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics: 8, 437-441 (2003).
• Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet: 73, 1147-1156 (2003).
• Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM. No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.
• Amyotroph Lateral Scler Other Motor Neuron Disord: 4,150-7 (2003).
• Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet: 31, 347-348 (2002).
• Proukakis C, Hart PE, Cornish A, Wood NW, Warner TT, Crosby AH. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J Neurol Sci: 201, 65-69 (2002).
• Mead SH, Proukakis C, Wood NW, Crosby AH, Plant GT, Warner TT: A large family with hereditary spastic paraparesis due to a frameshift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.
• J Neurol Neurosurg Psychiatry: 71, 788-791 (2001).
• Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC, Kolk CV, Bird L, Jones MC, Cunningham M, Clarren SK, Pyeritz RE, Weissenbach J, Jackson CE, Jabs EW. Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
• Genomics: 22, 418-424 (1994).
• Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT. Regulation of microtubule stability by Spastin. J Neurosci Res: 8, 2778-2782 (2007).
• Salinas S, Proukakis C, Crosby AH, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurology 7:1127-38 (2008).
• Invited editorials: Proukakis C: Parkinson’s disease genetics: alpha-synuclein and other insights from Greece. Eur H Neurol 2014. doi: 10.1111/ene.12357
• Crosby AH, Proukakis C: Is the transportation highway the right road for hereditary spastic paraplegia?. Am J Hum Genet: 71, 1009-16 (2002).
• Proukakis C, Bonakis A, Salman AM, Kalfakis N, Papageorgiou SG. Exit, pursued by a bear. Lancet. 2008; 372 :262.