Professor Paola Giunti

Book chapters:

• Stevanin G, David G, Abbas N, Durr A, Holmberg M, Duyckaerts C, Giunti P, Cancel G, Ruberg M, Mandel JL, Brice A.   Spinocerebellar ataxia 7. In : Analysis of triplet repeat disorders Ed Rubinsztein DC and Hayden MR. Bios Scientific Publishers Limited, Oxford. 1998
• P. Giunti, H Houlden, C. Gardner-Thorpe, P.F. Worth, J.Johnson,  Hilton D.A.,.Revesz T, Davis M.B,Wood N.W.. Subramony and  Durr: Ataxic Disorders in Handbook of Clinical Neurology

Journal articles:

• Nethisinghe S, Clayton L, Vermeer S, Chapple JP, Reilly M, Bremner F, Giunti P. Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Neuro-ophthalmology. 35(4), 197–201, 2012.
• Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA. Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. Arch Neurol. [Epub ahead of print]. 2012.
• Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, Tezenas du Montcel S, Borkert J, Schulz JB, Klockgether T. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum. 11(1):155-66. 2012
• Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 77(11):1035-41. 2011.
• Schmitz-Hübsch T, Coudert M, Tezenas du Montcel S, Giunti P, Labrum R, Dürr A, Ribai P, Charles P, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Baliko L, Melegh B, Filla A, Salvatore E, van de Warrenburg BP, Szymanski S, Infante J, Timmann D, Boesch S, Depondt C, Kang JS, Schulz JB, Klopstock T, Lossnitzer N, Löwe B, Frick C, Rottländer D, Schlaepfer TE, Klockgether T. Depression comorbidity in spinocerebellar ataxia. Mov Disord.;26(5):870-6. 2011.
• van Gaalen J, Giunti P, van de Warrenburg BP. Movement disorders in spinocerebellar ataxias. Mov. Disord. 26(5):792-800.2011
• Sokolovsky N, Cook A, Hunt H, Giunti P, Cipolotti L. A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7. Behav Neurol; 23(3):159. 2010.
• van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord. 30;25(6):763-5. 2010.
• Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. EMQN Best Practice Guidelines for molecular genetic testing of SCAs.Eur J Hum Genet. 18(11):1173-6. 2010
• Novak M, Sweeney M, Li A, , Treacy C, Giunti P, Davis M, Goold R, Houlden H,  Tabrizi S J. An ITPR1 gene deletion causes SCA15 and 16; a genetic, clinical and radiological description. Mov. Disord. Oct 15;25(13):2176-82 2010
• Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Linnemann C, Schöls L, Timmann D, Filla A, Salvatore E, Infante J, Giunti P, Labrum R, Kremer B, van de Warrenburg BP, Baliko L, Melegh B, Depondt C, Schulz J, du Montcel ST, Klockgether T. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology Feb 2010
• Schmitz-Hübsch T, Coudert M, Giunti P, Globas C, Baliko L, Fancellu R, Mariotti C, Filla A, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Schulz JB, Klopstock T, Melegh B, du Montcel ST, Klockgether T. Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study. Mov Disord Feb 19 2010
• Fonteyn EM, Schmitz-Hübsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, Bunn L, Charles P, Dürr A, Filla A, Giunti P, Globas C, Klockgether T, Melegh B, Pandolfo M, De Rosa A, Schöls L, Timmann D, Munneke M, Kremer BP, van de Warrenburg BP. Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study. Cerebellum Feb 16,2010
• Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 5(4): 222-34. 2009
• Schmitz-Hübsch T, Giunti P, Stephenson DA, Globas C, Baliko L, Saccà F, Mariotti C, Rakowicz M, Szymanski S, Infante J, van de Warrenburg BP, Timmann D, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Döhlinger S, Kremer B, Melegh B, Filla A, Klockgether T. SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. Neurology. 71(7):486-92. 2008
• Treacy C, Greenfield J, Giunti P. Centres of excellence for the care of people with progressive ataxias. Brit. J. Neurosci. Nurs. 4(11): 544 – 548. 2008
• Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Spinocerebellar ataxia type 1, 2, 3, and 6. Disease severity and nonataxia symptoms.Neurology. 71(13): 982-9,2008.
• Schmitz-Hübsch T, Giunti P, Stephenson DA, Globas C, Baliko L, Saccà F, Mariotti C, Rakowicz M, Szymanski S, Infante J, van de Warrenburg BP, Timmann D, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Döhlinger S, Kremer B, Melegh B, Filla A, Klockgether T.SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.Neurology. 12;71(7):486-92. 2008
• Johnson J, Wood N, Giunti P, Houlden H. Clinical and genetic analysis of spinocerebellar ataxia type 11.Cerebellum. Apr 12. 2008
• Matilla-Duenas A, Goold R, Giunti P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.Cerebellum. Apr 3. 2008
• Teo J.T.H, Schneider S.A, Cheeran B.J, Fernandez-del-Olmo M, Giunti P, Rothwell J.C, Bhatia K.P. Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6 Mov. Disord. 23(3):378-85 2008.
• Garrard P, Martin N.H, Wood N., Giunti P, Cipolotti L. J Cognitive and Social Cognition in Spinocerebellar Ataxia: A Preliminary Characterization. J Neurol.255(3):398-405, 2008
• Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet. 147B(4):439-46. 2008
• Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Durr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch Neurol.;64(10):1502-8 2007.
• Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA,Holton J, Revesz T, Davis MB, Giunti P, Wood NW.  Tau tubulin kinase 2, implicated in tau phosphorylation, contains mutations that segregate with spinocerebellar ataxia type 11. Nat. Genet. 39(12):1434-6, 2007
• van de Leemput J, Chandran J, Knight A M, Holtzclaw L. A, Scholz S, Cookson M., Houlden H, Gwinn-Hardy K, Fung H-C, Lin X, Hernandez D, Simon-Sanchez J, Wood N.W, Giunti P, Ian Rafferty, John Hardy, Elsdon Storey,R. J. McKinlay Gardner, Susan M, Forrest. Fisher E M.C, Russell J.T, Cai H, Singleton A, B. Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans PLoS Genet. Jun;3(6):e108. Epub 2007 May 16, 2007
• van de Warrenberg BP, Giunti P, Schneider SA, QuinnNP, Wood NW, Bhatia KP. The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity. J Neurol Neurosurg Psychiatry; 78(7):774-5 2007
• Greenfield  J,  Treacy  C,  Giunti  P. Centres of excellence for the care of people with progressive ataxias.  Br. J Nurs.; 15(17): 932-6. 2006
• T. Schmitz-Hübsch, , S. Tezenas du Montcel, L. Baliko, , J. Berciano, ,S. Boesch, , C. Depondt, ,R. Fancellu, P. Giunti, C. Globas, J. Infante, MD, J.-S. Kang, MD,  B. Kremer, MD, C. Mariotti, B. Melegh, M. Pandolfo, M. Rakowicz, P. Ribai, ,R. Rola, L. Schöls, S. Szymanski, B.P. van de Warrenburg, A. Dürr, T. Klockgether. Scale for the Assessment and Rating of Ataxia: Development of a new clinical scale. Neurology May 2006
• Duenas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain.129:1357-70. 2006 
• Schmitz- Hubsh T,  Tezenas du Montecel S, Baliko L, Boesch S, Bonato S, Fancellu R , Giunti P, Globas C, Kang JS, Kremer B, Mariotti C, Melegh B, Rakowicz M, Rola R, Romano S, Shols L, Szymanski S, van de Warrenburg BP,Zdziencka E, Durr A, Klogether T. Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients. Mov Disord. May;21(5):699-704. 2006
• Davies NP, Imbrici P, Fialho D, Herd C, Bisland LG, Weber A, MuellerR, Hilton Jones D, Ealing J, Bootham BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat –Rott K, Lehemann –Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. Oct 11; 65(7):1083-9. 2005
• Khan NL, Giunti P, Sweeney MG, Scherfler C, Brien MO, Piccini P, Wood NW, Lees AJ. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6. Mov Disord. Sep;20(9):1115-9. 2005
• Kamm C, Healy DG, Quinn NP, Wullner U, Moller JC, Schols L, Geser F, Burk K, Borglum AD, Pellecchia MT, Tolosa E, Del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P,  Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK,  Wood NW, Gasser T.  The fragile X  tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain June 9. 2005
• Ansorge O, Giunti P, Michkalik A,Van Broekhoven C, Harding B, Wood NW, Scaravilli F. Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. Annals of Neurology 56(3):448-52 2004.
• Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, Frontali M, Jurkat-Rott K. A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetic  5:177-85 2004
• Mantuano E, Veneziano L, Spadaro M, Giunti P, Guida S, Leggio M, Verriello L, Wood N, Jodice C, Frontali M. Clusters of  CACNA1A non protein truncating mutation causing  episodic ataxia 2. Journal of Medical Genetic  41e82, 2004
• Kuoppamaki M, Giunti P, Quinn N, Wood NW, Bhatia KP. Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia? Mov. Disorder  18:200, 2003
• Pang JT, Giunti P, Chamberlain S, An SF, Vitaliani R, Scaravilli T, Martinian L, Wood NW, Scaravilli F, Ansorge O. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain.  125: 656-63, 2002
• Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am. J. Hum. Genet. 68:523-8, 2001
• Worth PF, Houlden H, Giunti P, Davies MB, Wood NW. Large expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat.Genet. 24:214-215, 2000
• Stevanin G, David G, Durr A, Giunti P, Benomar A, Abdaba-Bendib M, Lee MS, Agid Y, Brice A. Multiple origins of the spinocerebellar ataxia 7(SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphysm (G3145 /TG/A3145 TG). Eur.J.Hum.Genet. 7:889-896, 1999
• Worth P.W, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Am.J.Hum.Genet..65:420-426, 1999
• Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation. Am.J.Hum.Genet.64:1594-1603,1999
• Stevanin G, Giunti P, David G, Belal S, Durr A, Merle R, Wood N, Brice A. De novo mutation from intermediate alleles in spinocerebellar ataxia 7. Hum.Mol.Genet. 7:1809-1813, 1998
• Giunti P, Sabbadini G, Sweeney MG, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW. The role of the SCA2 trinucleotide repeat expansion in 77 ADCA I families: Frequency, clinical and genetic correlates. Brain. 12:459-467, 1998
• David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saoudou F, Antoniou E, Drabkin H, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. :Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unsteable CAG repeat expansion. Nat. Genet. 17:65-70, 1997
• David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbach J, Wood N, Cunha S, Drabkin H, Harding A.E, Agid Y, Brice A. The Gene for Autosomal Dominant Cerebellar Ataxia Type II is located in a 5-cM Region in 3p12-p13: Genetic and physical mapping of the SCA7 locus. Am. J. Hum. Genet. 59:1328-1336, 1996
• Frontali M, Sabbadini G, Novelletto A., Jodice C, Naso ., Spadaro M, Giunti P, Jacopini AG, Veneziano L, Mantuano E, Malaspina P, Ulizzi L, Brice A, Durr A, Terrenato L. Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. Ann.Hum.Genet. 60: 423-435, 1996
• Giunti P, Sweeney MG, Harding AE. Detection of the Machado Joseph disease/ spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders including the Drew Family of Walworth. Brain  118:1077-85, 1995
• Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, Frontali M, Harding AE. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain.117: 645-650;1994
• Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, Morocutti C, Terrenato L, Harding A.E, Frontali M. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum.Genet. 54:959-965;1994
• Malandrini A, Villanova M, Piombini P, Collodel G, Spadaro M, Giunti P, Salvadori C, Morocutti C, Guazzi GC. Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism. J. Submicroscopic.Cytol. Pathol. 5: 371-375; 1993
• Jodice C, Frontali M, Persichetti F, Novelletto A, Pandolfo M, Spadaro M, Giunti P, Schinaia G, Lulli P, Malaspina P, Plasmati R, Tola R, Antonelli A, Di Donato S, Morocutti C, Weissenbach J, Cann H.M, Terrenato L. The gene for spinal cerebellar ataxia I (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Hum.Mol.Genet.  2:1383-1387;1993
• Spadaro M, Giunti P, Colazza GB, Naso F, Bianco F, Morocutti C. Clinical study of large kindreds with autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) of late onset. Ital.J.Neurol Sci.14: 17-21;1993
• Frontali M, Spadaro M, Giunti P, Biano F, Jodice C, Persichetti F, Colazza G.B, Lulli P, Terrenato L, Morocutti C. Autosomal dominant pure cerebellar ataxia, neurological and genetic study. Brain.115: 1647-1654;1992
• Jodice C, Persichetti F, Novelletto A, Malaspina P, Schinaia G, Frontali M, Lulli P, Cappellacci S, Giunti P, Spadaro M, Morocutti C, Antonelli A, Pandolfo M, Di Donato S, Piccinelli A, Terrenato L. Atassia spinocerebellare (SCA1). Pathologica. 85: 37-38; 1992
• Spadaro M, Giunti P, Lulli P, Frontali M, Jodice C, Cappellacci S, Morellini M, Persichetti F,Trabace S., Anastasi R, Morocutti C. HLA-linked spinocerebellar ataxia :a clinical and genetic study of  large Italian kindreds. Acta .Neurol. Scand. 85: 257-265;1992
• Stanzione P, Fattaposta F, Giunti P, D'Alessio C, Tagliati M, Africano C, Amabile G. P300 variation in parkinsonian patients before and during dopaminergic monotherapy a suggested dopamine component in P300. Electroenceph. clin. Neurophisiol. 80: 446-453; 1991
• Frontali M, Jodice C, Lulli P, Spadaro M, Cappellacci S, Giunti P, Morellini M, Morocutti C, Novelletto A, Persichetti F, Trabace S, Anastasi R, Terrenato L. Spinocerebellar ataxia  (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster. Ann. Hum. Genet. 55: 7-15; 1991
• Giunti P, Spadaro M, Colazza GB, Morocutti C. Recent results in ataxia research. Nuova Rivista di Neurologia 1:154-157; 1991
• Giunti P, Spadaro M, Frontali M, Bianco F, Morocutti C. Studio clinico di due famiglia con atassia spinocerebellare autosomica dominante ad esordio tardivo in linkage con l'HLA.  Risultati preliminari. Rivista di Neurologia. 60: 176-179;1990
• Amabile G, Fattapposta F, Giunti P, D'Alessandro M, Rizzo P.A, Morocutti C. Osservazioni relative al trattamento nell'invecchiamento cerebrale: Valutazioni neurofisiologiche sull'attivita' di sostanze nootrope. Therapeutica.4: 3-4;1987
• Amabile G, Stefano E, Bianco I, Aliquo MC, Giunti P, Pierelli F, Rizzo P.A, Morocutti C. Electrophysiological (EEG, BAEP, VEP) study in patients with beta-thalassemia major. Acta Neurologica Belg. ,87:181-190; 1987