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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
More...

Christos Proukakis

(Senior Lecturer and Honorary Consultant Neurologist)

I am interested in the genetic causes and molecular and cellular pathways of neurodegeneration, particularly hereditary spastic paraplegia and Parkinson's disease. I am especially interested in the unexplored possibility of somatic mutations leading to neurodegeneration.

Methods I use are antibody assays, Cell culture, Confocal microscopy, Gene expression profiling - tissue level, Genomic analyses, Genetic screens, Linkage, mapping and positional cloning, Protein transport/localisation.


Contact details

Lab website


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Number of items: 58.

2016

Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access
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2015

Beavan, M; McNeill, A; Proukakis, C; Hughes, DA; Mehta, A; Schapira, AH; (2015) Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol , 72 (2) 201 - 208. 10.1001/jamaneurol.2014.2950. Green open access
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Beavan, MS; (2015) Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Doctoral thesis, UCL (University College London). Green open access
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Iype, T; Alakbarzade, V; Iype, M; Singh, R; Sreekantan-Nair, A; Chioza, BA; Mohapatra, TM; (2015) A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet , 16 104-. 10.1186/s12881-015-0251-5.

Kiely, AP; Ling, H; Asi, YT; Kara, E; Limousin, P; Lewis, P; Proukakis, C; (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. In: (pp. p. 31).

Kiely, AP; Ling, H; Asi, YT; Kara, E; Proukakis, C; Schapira, AH; Morris, HR; (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration , 10 , Article 41. 10.1186/s13024-015-0038-3. Green open access
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Porcari, R; Proukakis, C; Waudby, CA; Bolognesi, B; Mangione, PP; Paton, JF; Mullin, S; (2015) The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein. J Biol Chem , 290 (4) 2395 - 2404. 10.1074/jbc.M114.610527. Green open access
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2014

Ejaz, A; Toescu, S; Nageshwaran, S; Proukakis, C; (2014) A PROSPECTIVE AUDIT OF PRESCRIBING IN PARKINSON'S DISEASE. Presented at: UNSPECIFIED.

Kara, E; Kiely, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology , 71 (9) 1162 - 1171. 10.1001/jamaneurol.2014.994.

Liu, Y-T; Laura, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations. NEUROLOGY , 83 (7) pp. 612-619.

Liu, YT; Laurá, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology , 83 (7) pp. 612-619. 10.1212/WNL.0000000000000691.

Proukakis, C; (2014) Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece. Eur J Neurol , 21 (7) pp. 946-947. 10.1111/ene.12357.

Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access
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Zokaei, N; McNeill, A; Proukakis, C; Beavan, M; Jarman, P; Korlipara, P; Hughes, D; (2014) Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain , 137 (Pt 8) pp. 2303-2311. 10.1093/brain/awu143.

2013

Harlalka, GV; Lehman, A; Chioza, B; Baple, EL; Maroofian, R; Cross, H; Sreekantan-Nair, A; (2013) Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain , 136 (Pt 12) pp. 3618-3624. 10.1093/brain/awt270.

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. Presented at: UNSPECIFIED.

Proukakis, C; Dudzik, CG; Brier, T; MacKay, DS; Cooper, JM; Millhauser, GL; Houlden, H; (2013) A novel α-synuclein missense mutation in Parkinson disease. Neurology , 80 (11) pp. 1062-1064. 10.1212/WNL.0b013e31828727ba.

Proukakis, C; Houlden, H; Schapira, AH; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders 10.1002/mds.25502. Green open access
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2012

McNeill, A; Duran, R; Proukakis, C; Bras, J; Hughes, D; Mehta, A; Hardy, J; (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) pp. 526-532. 10.1002/mds.24945.

2011

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2011) 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 , 306 (1-2) 62 - 65. 10.1016/j.jns.2011.03.043.

2010

Crosby, AH; Patel, H; Chioza, BA; Proukakis, C; Gurtz, K; Patton, MA; Sharifi, R; (2010) Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia. AM J HUM GENET , 87 (5) 655 - 660. 10.1016/j.ajhg.2010.09.013.

Dick, KJ; Eckhardt, M; Paisan-Ruiz, C; Alshehhi, AA; Proukakis, C; Sibtain, NA; Maier, H; (2010) Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35). HUM MUTAT , 31 (4) E1251 - E1260. 10.1002/humu.21205.

2009

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2009) A clinical and genetic study of hereditary spastic paraplegia caused by SPAST/SPG4 mutations, including 12 new mutations. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 296 - 296). WILEY-BLACKWELL PUBLISHING, INC

Smith, BN; Bevan, S; Vance, C; Renwick, P; Wilkinson, P; Proukakis, C; Squitieri, F; (2009) Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. CLIN GENET , 75 (5) 485 - 489. 10.1111/j.1399-0004.2009.01184.x.

2008

Proukakis, C; Bonakis, A; Salman, AM; Kalfakis, N; Papageorgiou, SG; (2008) Exit, pursued by a bear. LANCET , 372 (9634) 262 - 262.

Salinas, S; Proukakis, C; Crosby, A; Warner, TT; (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. LANCET NEUROL , 7 (12) 1127 - 1138.

2007

Salinas, S; Carazo-Salas, RE; Proukakis, C; Schiavo, G; Warner, TT; (2007) Spastin and microtubules: Functions in health and disease. JOURNAL OF NEUROSCIENCE RESEARCH , 85 (12) 2778 - 2782. 10.1002/jnr.21238.

2005

Priestman, DA; Neville, DCA; Reinkensmeier, G; Simpson, MA; Proukakis, C; Patten, M; Dwek, RA; (2005) Human GM3 synthase deficiency: A novel form of hereditary childhood epilepsy. In: GLYCOBIOLOGY. (pp. 1192 - 1192). OXFORD UNIV PRESS INC

Proukakis, C; Bonakis, A; Papageorgiou, S; Kalfakis, N; (2005) Multiple system atrophy presenting with stridor. EUR J NEUROL , 12 106 - 107.

Salinas, S; Carazo-Salas, RE; Proukakis, C; Cooper, JM; Weston, AE; Schiavo, G; Warner, TT; (2005) Human spastin has multiple microtubule-related functions. J NEUROCHEM , 95 (5) 1411 - 1420. 10.1111/j.1471-4159.2005.03472.x.

Wiznitzer, M; Wang, H; Proukakis, C; Cross, H; Maxwell, K; Gurtz, K; Crosby, A; (2005) GM3 synthase deficiency: A disorder of ganglioside biosynthesis presenting as an infantile epilepsy. In: ANNALS OF NEUROLOGY. (pp. S102 - S102). WILEY-LISS

2004

Priestman, DA; Neville, DCA; Reinkensmeier, G; Simpson, MA; Proukakis, C; Patton, MA; Dwek, RA; (2004) Human GM3 synthase deficiency: Autosomal recessive infantile onset symptomatic epilepsy syndrome. In: GLYCOBIOLOGY. (pp. 1179 - 1179). OXFORD UNIV PRESS INC

Proukakis, C; Cross, H; Patel, H; Patton, MA; Valentine, A; Crosby, AH; (2004) Troyer syndrome revisited - A clinical and radiological study of a complicated hereditary spastic paraplegia. J NEUROL , 251 (9) 1105 - 1110. 10.1007/s00415-004-0491-3.

Proukakis, C; Taanman, JW; Cooper, JM; Warner, TT; (2004) Cellular studies of spastin, the protein commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4). In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 521 - 521). B M J PUBLISHING GROUP

Simpson, MA; Cross, H; Proukakis, C; Priestman, DA; Neville, DCA; Reinkensmeier, G; Wang, H; (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. NAT GENET , 36 (11) 1225 - 1229. 10.1038/ng1460.

Warner, TT; Patel, H; Proukakis, C; Reed, JA; McKie, L; Wills, A; Patton, MA; (2004) A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J NEUROL , 251 (9) 1068 - 1074. 10.1007/s00415-004-0401-8.

Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Horl, G; Malli, R; (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. NAT GENET , 36 (3) 271 - 276. 10.1038/ng1313.

Windpassinger, C.; Auer-Grumbach, M.; Irobi, J.; Patel, H.; Petek, E.; Hörl, G.; Malli, R.; (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics , 36 (3) pp. 271-276. 10.1038/ng1313.

2003

Ahmad-Annuar, A; Shah, P; Hafezparast, M; Hummerich, H; Witherden, AS; Morrison, KE; Shaw, PJ; (2003) 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 SC , 4 (3) 150 - 157.

Ciccarelli, FD; Proukakis, C; Patel, H; Cross, H; Azam, S; Patton, MA; Bork, P; (2003) The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. GENOMICS , 81 (4) 437 - 441. 10.1016/S0888-7543(03)00011-9.

Crosby, AH; Proukakis, C; Simpson, M; Patton, MA; Cross, H; (2003) A clinical study of Mast syndrome, an autosomal recessive form of hereditary spastic paraplegia with dementia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 264 - 264). UNIV CHICAGO PRESS

Proukakis, C; Auer-Grumbach, M; Wagner, K; Wilkinson, PA; Reid, E; Patton, MA; Warner, TT; (2003) Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat , 21 (2) 170-. 10.1002/humu.9108.

Proukakis, C; Crosby, AH; Auer-Grumbach, M; Wagner, K; Reid, E; Patton, MA; Warner, TT; (2003) Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 406 - 407). BRITISH MED JOURNAL PUBL GROUP

Proukakis, C; Simpson, M; Pryde, A; Patton, MA; Cross, H; Crosby, AH; (2003) Mapping of a novel form of infantile onset epilepsy syndrome to chromosome 2p. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 470 - 470). UNIV CHICAGO PRESS

Simpson, M; Proukakis, C; Cross, H; Patton, MA; Crosby, AH; (2003) Maspardin is mutated in Mast syndrome, a form of hereditary spastic paraplegia associated with dementia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 179 - 179). UNIV CHICAGO PRESS

Simpson, MA; Cross, H; Proukakis, C; Pryde, A; Hershberger, R; Chatonnet, A; Patton, MA; (2003) Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. AM J HUM GENET , 73 (5) 1147 - 1156.

2002

Crosby, AH; Patel, H; Patton, MA; Proukakis, C; Cross, H; (2002) Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 516 - 516). UNIV CHICAGO PRESS

Crosby, AH; Proukakis, C; (2002) Is the transportation highway the right road for hereditary spastic paraplegia? AM J HUM GENET , 71 (5) 1009 - 1016.

Fenske, CD; Warner, TT; Patel, H; Patton, MA; Proukakis, C; Crosby, AH; (2002) Genetic heterogeneity in Silver syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 517 - 517). UNIV CHICAGO PRESS

Patel, H; Ciccarelli, F; Proukakis, C; Patton, MA; Bork, P; Crosby, AH; (2002) A novel sequence motif highlights a functional link between spartin and spastin, mutated in hereditary spastic paraplegia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 520 - 520). UNIV CHICAGO PRESS

Patel, H; Cross, H; Proukakis, C; Hershberger, R; Bork, P; Ciccarelli, FD; Patton, MA; (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. NAT GENET , 31 (4) 347 - 348. 10.1038/ng937.

Proukakis, C; Cross, H; Patel, H; Patton, MA; Valentine, A; Crosby, AH; (2002) A clinical study of the Troyer syndrome, a recessively inherited form of complicated hereditary spastic paraplepia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 260 - 260). UNIV CHICAGO PRESS

Proukakis, C; Hart, PE; Cornish, A; Warner, TT; Crosby, AH; (2002) Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J NEUROL SCI , 201 (1-2) 65 - 69.

2001

Mead, SH; Proukakis, C; Wood, N; Crosby, AH; Plant, GT; Warner, TT; (2001) A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J NEUROL NEUROSUR PS , 71 (6) 788 - 791.

Proukakis, C; Comiskey, C; Reid, E; Wilkinson, P; Rubinsztein, D; Patton, MA; Warner, TT; (2001) SPG4 (spastin) mutation screening in hereditary spastic paraparesis. AM J HUM GENET , 69 (4) 600 - 600.

1994

LI, XA; LEWANDA, AF; ELUMA, F; JERALD, H; CHOI, H; ALOZIE, I; PROUKAKIS, C; (1994) 2 CRANIOSYNOSTOTIC SYNDROME LOCI, CROUZON AND JACKSON-WEISS, MAP TO CHROMOSOME-10Q23-Q26. GENOMICS , 22 (2) 418 - 424.

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