4 research outputs found
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.
- Author
- Abbruzzese G
- Albanese A
- Andrews T
- Andrews T
- Andrich J
- Antczak J
- Arques PN
- Arran N
- Arroyo SE
- Aziz NA
- Badenes D
- Bandettini di Poggio M
- Bandmann O
- Barberà MA
- Barker RA
- Barrero FJ
- Barth K
- Bas J
- Bascunana Garde M
- Bascuñana M
- Bentivoglio AR
- Bentivoglio AR
- Bertini E
- Beuster A
- Bisson J
- Biunno I
- Bjørgo K
- Bjørnevoll I
- Bohlen S
- Bolwijn JJ
- Bonelli R
- Bonelli RM
- Bos R
- Bourne C
- Bradbury A
- Brockie P
- Bruno S
- Bryl A
- Burgunder JM
- Burgunder JM
- Burrows L
- Busse M
- Calopa M
- Carlo R
- Carruesco GT
- Casas L
- Chu C
- Ciarmielo A
- Ciesielska A
- Clayton C
- Coelho M
- Contreras SR
- Costa C
- Craufurd D
- Cubillo PT
- Cubo E
- Curtis A
- DE MICHELE GIUSEPPE
- de Raedt S
- De Sousa PA
- de Weert AM
- de Yébenes JG
- Dekker M
- del Val JL
- Di Donato S
- Dipple H
- Dose M
- Dougherty A
- Dumas E
- Dunnett SB
- Ecker D
- Ecker D
- Edwards M
- EHDN Registry Study Group
- Ellison Rose L
- Fannemel M
- Fasano A
- Fatas M
- Ferrandes G
- Ferreira J
- Ferreira JJ
- Ferrer PQ
- Fillingham K
- Fisher K
- Flamez A
- Fletcher A
- Foster J
- Foustanos I
- Frontali M
- Fullam R
- Gago M
- Garcia Ramos Garcia R
- Garrett C
- Gaston I
- Golding C
- Golding C
- Gorospe A
- Goyder Goodman AO
- Grant J
- Gross D
- Guerra MR
- Guidubaldi A
- Gørvell P
- Hallam C
- Handley O
- Handley OJ
- Handley OJ
- Hasholt L
- Heiberg A
- Heiberg A
- Heinicke W
- Heinonen N
- Held C
- Henley S
- Herranhof B
- Hidding U
- Hiivola H
- Hill S
- Hjermind LE
- Hobson E
- Hodl A
- Hoffmann R
- Howard L
- Hughes T
- Hunger U
- Huson S
- Illmann T
- Illmann T
- Jacopini G
- Jakobsen O
- Jamieson S
- Jamrozik Z
- Janik P
- Johns N
- Jurgens CK
- Jurgens CK
- Kalbarczyk A
- Kavalier F
- Kershaw A
- Keylock J
- Klimberg A
- Koppitz M
- Kosinski CM
- Kozubski W
- Kraus P
- Krupinski J
- Kwiecinski H
- Lalongo T
- Lammbeck J
- Landwehrmeyer B
- Landwehrmeyer GB
- Landwehrmeyer GB
- Lange H
- Lashwood A
- Laura M
- Laver F
- Leenders KL
- Legarda I
- Levey J
- Leythaeuser G
- Lezius F
- Longinus B
- Loria G
- Luigi DM
- López J
- López Moreno JL
- Löhle M
- Magnet M
- Mandes P
- Marchese R
- Marcinkowski J
- Mariotti C
- Mariscal N
- Marquard R
- Martikainen K
- Martinez A
- Martinez Descals A
- Martinez L
- Martino T
- Mason S
- Matheson K
- McGill M
- McKenzie S
- Mechi C
- Mestre T
- Mestre T
- Middleton J
- Monza D
- Morales B
- Morez V
- Murch A
- Möller JC
- Münchau A
- Naji J
- Naji J
- Nemeth AH
- Nielsen JE
- Norremolle A
- O'Driscoll C
- Obdulia M
- Orth M
- Orth M
- Orth M
- Otti D
- Padieu H
- Paganini M
- Painold A
- Partington Jones L
- Patel A
- Paterson N
- Pearson P
- Peinemann A
- Peippo M
- Piacentini S
- Piano C
- Pin Quiroga P
- Porteous M
- Prehn C
- Price K
- Priller J
- Pro Koivisto S
- Probst D
- PrüB H
- Päivärinta M
- Quarrell O
- Rae D
- Rakowicz M
- Ramos Arroyo MA
- Raymond L
- Reilmann R
- Reisinger K
- Retterstøl L
- Reynders H
- Rialland A
- Ribai P
- Ribas GG
- Richter P
- Rickards H
- RINALDI CARLO
- Rissling I
- Ritchie N
- Robertson D
- Robertson L
- Rodriguez MJ
- Rojo Sebastian A
- Romano S
- Romero I
- Romoli M
- Roos R.A. Bachoud Levi AC
- Roos RA
- Roos RA
- Ros R
- Rosa MM
- Rosser A
- Rosser E
- Ruddy D
- Rudzinska M
- Ruiz Espiga PJ
- Ryglewicz D
- Saft C
- Saiz Artiga MJ
- Salmen S
- SALVATORE ELENA
- Sando SB
- Sasinkova P
- Sass C
- Schiefer J
- Schlangen C
- Schmidt S
- Schrenk C
- Schuierer M
- Schwarz C
- Schwenke C
- Schüpbach M
- Sebastián AR
- Sempolowicz PJ
- Silva M
- Simonelli M
- Simpson S
- Sipponen M
- Sitek EJ
- Siuda G
- Slawek J
- Snowden J
- Soleti F
- Soliveri P
- Solom A
- Soltan W
- Sorbi S
- Sorensen SA
- Spadaro M
- Squitieri F
- Stijnen T
- Stokholm J
- Stopford C
- Storch A
- StraBburger K
- Stubbe L
- Städtler M
- Summers F
- Szczudlik A
- Sánchez J
- Sánchez V
- Tabrizi S
- Tabrizi SJ
- Taylor R
- Thomas A
- Thomas G
- Thompson J
- Tidswell K.
- Toscano J
- Trautmann S
- Trigo Cubillo P
- TUCCI TECLA
- Tuuha K
- Uhrova T
- Ure A
- Valadas A
- van Hout MS
- van Ommen GJ
- van Oostrom JC
- Van Reijen D
- van Roon Mom WM
- van Vugt JP
- van Walsem M
- van Walsem MR
- Vandenberghe W
- Vandenberghe W
- Vara JH
- Verellen Dumoulin C
- Verellen Dumoulin C
- Villanueva C
- Wahlstrom J
- Wallner M
- Warner T
- Weindl A
- Werner CJ
- Westmoreland L
- Whaite A
- Wiedemann A
- Wild E
- Wild S
- Witjes Ane MN
- Witjes Ané MN
- Wolz A
- Wolz M
- Wright J
- Wójcik M
- Yardumian P
- Zaremba J
- Zaremba J
- Zaugg SW
- Zdzienicka E
- Zema A
- Zielona D
- Zielonka D
- Zinzi P
- Zucker B
- Publication venue
- Publication date
- 01/01/2009
- Field of study
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.
- Author
- Abbruzzese G
- Aguilar Barbera M
- Albanese A
- Andrews T
- Andrews T
- Andrich J
- Antczak J
- Arran N
- Aziz NA
- Bachoud-Levi A-C
- Badenes D
- Bandmann O
- Barker RA
- Barrero FJ
- Barth K
- Bas J
- Bascunana M
- Beister A
- Bentivoglio AR
- Bentivoglio AR
- Bertini E
- Bisson J
- Biunno I
- Bjorgo K
- Bjornevoll I
- Bohlen S
- Bolwijn JJW
- Bonelli R
- Bonelli RM
- Bos R
- Bos R
- Bourne C
- Bradbury A
- Brockie P
- Bruno S
- Bryl A
- Burgunder J-M
- Burgunder J-M
- Burrows L
- Busse M
- Calopa M
- Carlo R
- Casas L
- Chu C
- Ciarmiello A
- Ciesielska A
- Clayton C
- Coelho M
- Costa C
- Craufurd D
- Cubillo PT
- Cubo E
- Curtis A
- De Michele G
- de Raedt S
- De Sousa PA
- Dekker M
- Descals AM
- Di Donato S
- Dipple H
- Dose M
- Dougherty A
- Dumas E
- Dunnett SB
- Ecker D
- Ecker D
- Edwards M
- Ellison-Rose L
- Escalante Arroyo S
- Fannemel M
- Fasano A
- Fatas M
- Ferrandes MBDPG
- Ferreira JJ
- Ferreira JJ
- Fillingham K
- Fisher K
- Flamez A
- Fletcher A
- Foster J
- Foustanos I
- Frontali M
- Fullam R
- Gago M
- Garcia de Yebenes J
- Garcia Ribas G
- Garcia Ruiz-Espiga P-J
- Garcia-Ramos Garcia R
- Garde MB
- Garrett C
- Gaston I
- Golding C
- Golding C
- Goodman AOG
- Gorospe A
- Gorvell P
- Grant J
- Gross D
- Guerra MR
- Guidubaldi A
- Hallam C
- Handley O
- Handley OJ
- Handley OJ
- Handley OJ
- Hasholt L
- Heiberg A
- Heiberg A
- Heinicke W
- Heinonen N
- Held C
- Henley S
- Hernandez Vara J
- Herranhof B
- Hidding U
- Hiivola H
- Hill S
- Hjermind LE
- Ho A
- Hobson E
- Hoedl A
- Hoffmann R
- Howard L
- Hughes T
- Hunger U
- Huson S
- Ialongo T
- Illman T
- Jacopini G
- Jakobsen O
- Jamieson S
- Jamrozik Z
- Janik P
- Johns N
- Jurgens CK
- Jurgens CK
- Kalbarczyk A
- Kavalier F
- Kershaw A
- Keylock J
- Klimberg A
- Koivisto SP
- Koppitz M
- Kosinski CM
- Kozubski W
- Kraus P
- Krupinski J
- Kwiecinski H
- Lammbeck J
- Landwehrmeyer B
- Landwehrmeyer GB
- Landwehrmeyer GB
- Lange H
- Lange H
- Lashwood A
- Laura M
- Laver F
- Leenders KL
- Legarda I
- Levey J
- Leythaeuser G
- Lezius F
- Loehle M
- Longinus B
- Lopez del Val J
- Lopez Moreno JL
- Lopez J
- Lopez-Sendon Moreno JL
- Loria G
- Luigi DM
- Magnet M
- Mandes P
- Marchese R
- Marcinkowski J
- Mariotti C
- Mariscal N
- Marit de Weert A
- Marquard R
- Martikainen K
- Martinez A
- Martinez L
- Martino T
- Mason S
- Matheson K
- McGill M
- McKenzie S
- Mechi C
- Mestre T
- Mestre T
- Middleton J
- Moeller JC
- Monza D
- Morales B
- Morez V
- Muenchau A
- Murch A
- Naji J
- Naji J
- Navas Arques P
- Nemeth AH
- Nielsen JE
- Norremolle A
- O'Driscoll C
- Obdulia M
- Orth M
- Orth M
- Otti D
- Padieu H
- Paganini M
- Painold A
- Paivarinta M
- Partington-Jones L
- Patel A
- Paterson N
- Pearson P
- Peinemann A
- Peippo M
- Piacentini S
- Piano C
- Pin Quiroga P
- Porteous M
- Prehn C
- Price K
- Priller J
- Probst D
- Pruess H
- Quarrell O
- Quilez Ferrer P
- Rae D
- Rakowicz M
- Ramos-Arroyo MA
- Raymond L
- Reilmann R
- Reisinger K
- Retterstol L
- Reynders H
- Rialland A
- Ribai P
- Richter P
- Rickards H
- Rinaldi C
- Rissling I
- Ritchie N
- Robertson D
- Robertson L
- Rojo Sebastian A
- Romano S
- Romero Contreras S
- Romero I
- Romoli M
- Roos RAC
- Roos RAC
- Roos RAC
- Rosa MM
- Rosser A
- Rosser E
- Ruddy D
- Rudzinska M
- Ryglewicz D
- Saft C
- Saiz Artiga MJ
- Salmen S
- Salvatore E
- Sanchez J
- Sanchez V
- Sando SB
- Sasinkova P
- Sass C
- Schiefer J
- Schlangen C
- Schmidt S
- Schrenk C
- Schuepbach M
- Schuierer M
- Schwarz C
- Schwenke C
- Sebastian AR
- Sempolowicz PJ
- Silva M
- Simonelli M
- Simpson S
- Sipponen M
- Sitek EJ
- Siuda G
- Slawek J
- Snowden J
- Soleti F
- Soliveri P
- Solom A
- Soltan W
- Sorbi S
- Sorensen SA
- Spadaro M
- Squitieri F
- Staedtler M
- Stijnen T
- Stokholm J
- Stopford C
- Storch A
- Strassburger K
- Stubbe L
- Summers F
- Szczudlik A
- Tabrizi S
- Tabrizi SJ
- Tabrizi SJ
- Taylor R
- Thomas G
- Thompson J
- Thomson A
- Tidswell K
- Tome Carruesco G
- Torres Rodriguez MJ
- Toscano J
- Trautmann S
- Trigo Cubillo P
- Tucci T
- Tuuha K
- Uhrova T
- Ure A
- Valadas A
- van Hout MSE
- van Ommen GJB
- van Oostrom JCH
- van Reijen D
- van Roon-Mom WMC
- van Vugt JPP
- van Walsem M
- van Walsem MR
- Vandenberghe W
- Vandenberghe W
- Verellen-Dumoulin C
- Verellen-Dumoulin C
- Villanueva C
- Wahlstrom J
- Wallner M
- Warner T
- Weindl A
- Werner CJ
- Westmoreland L
- Whaite A
- Wiedemann A
- Wild E
- Wild EJ
- Wild S
- Witjes-Ane M-N
- Witjes-Ane M-N
- Wojcik M
- Wolz A
- Wolz M
- Wright J
- Yardumian P
- Zaremba J
- Zaremba J
- Zaugg SW
- Zdzienicka E
- Zema A
- Zielonka D
- Zielonka D
- Zinzi P
- Zucker B
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/01/2009
- Field of study
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
- Author
- Aaserud O
- Abbruzzese G
- Abramson RK
- Adams J
- Agarwal P
- Ahmed A
- Allen P
- Ames D
- Anderson C
- Anderson K
- Anderson K
- Andrews T
- Andrews T
- Andrich J
- Antczak J
- Antonijevic I
- Arran N
- Artiga MJ
- Ashburner J
- Ashizawa T
- Axelson E
- Aylward E
- Ayuso C
- Bachoud Lévi A
- Banaszkiewicz K
- Bandmann O
- Barbera MA
- Barker RA
- Barker RA
- Barrero F
- Barth K
- Barth K
- Barton S
- Barton S
- Bas J
- BascuñanaGuerra M
- Baynes K
- Bea A
- Beall E
- Beck C
- Beg MF
- Beglinger LJ
- Beister A
- Bentivoglio AR
- Bertini E
- Biglan K
- Biunno I
- Bjork K
- Bjørgo K
- Bjørnevoll I
- Blanchard S
- Bockholt J
- Bohlen S
- Bommu SR
- Bonelli RM
- Bos R
- Bourne C
- Bradbury A
- Brockie P
- Brossman B
- Brown F
- Broyles J
- Bruno S
- Bryl A
- Buck A
- Burg S
- Burgunder JM
- Burns P
- Burrows L
- Burrows M
- Busquets N
- Busse M
- Calhoun V
- Calopa M
- Carlozzi N
- Carruesco GT
- Casado AG
- Catena JL
- Chesire A
- Chiu E
- Chiu E
- Chu C
- Chua P
- Churchyard A
- Ciesielska A
- Clapton J
- Clayton C
- Clenaghan C
- Clouse R
- Coelho M
- COHORT study of the H.S.G. CollaboratorsDurr A
- Colcher A
- Coleman A
- Conneally PM
- Connell RJ
- Connemann J
- Connor C
- Corey Bloom J
- Corey Bloom J
- Craufurd D
- Craufurd D
- Crooks J
- Cross S
- Cubillo PT
- Cubo E
- Curtis A
- Cysique L
- Davis J
- Davis R
- DE MICHELE GIUSEPPE
- De Nicola A
- de Souza J
- de Weert A
- de Yebenes JG
- de Yébenes JG
- Decolongon J
- Decolongon J
- Dekker M
- DeLaRosa J
- Descals A
- Deuel L
- Di Donato S
- Di Maio L
- Di Pietro A
- di Poggio MB
- Dietrich S
- Diggin M
- DiPietro A
- Dipple H
- Dorsey R
- Dose M
- Doucette N
- Downing N
- Drazinic C
- Dubinsky H
- Dubinsky R
- Duckett A
- Dudler A
- Duff K
- Dumas EM
- Dunn S
- Dunnett S
- Eaton K
- Ecker D
- Ecker D
- Elifani F
- Ellison Rose L
- Elorza MD
- Epping EA
- Erickson D
- Erickson D
- Erwin C
- Eschenbach C
- Evans C
- Evans K
- Factor S
- Factor SA
- Fairtlough H
- Fannemel M
- Farias S
- Fasano A
- Fatas M
- Fenollar M
- Ferrandes G
- Ferreira JJ
- Fiedorowicz J
- Fillingham K
- Finisterra AM
- Fisher K
- Fitzpatrick MJ
- Fletcher A
- Foroud T
- Foster J
- Foustanos I
- Frank S
- Frati L
- Frech FA
- Frontali M
- Frucht S
- Fullam R
- Fullam R
- Fullham R
- Furtado S
- Furtado S
- Gago M
- García RG
- García SS
- Garde MB
- Garrett C
- Gartner M
- Gehl C
- Gellera C
- Geschwind MD
- Gill P
- Gillis T
- Ginestroni A
- Giuliano J
- Goh A
- Golding C
- Goldstein J
- Gomez Tortosa E
- Gooblar J
- Goodman A
- Goodman A
- Grant J
- Greenamyre T
- Griffith J
- Griffith J
- Griguoli A
- Gross D
- Groves M
- Guedes L
- Guerra MR
- Guerrero R
- Guia DB
- Guidubaldi A
- Gusella JF
- Guttman M
- Gørvell P
- Hadzi T
- Hallam C
- Hamer S
- Hamilton J
- Hammer K
- Handley OJ
- Harding A
- Harrington D
- Harris G
- Harrison MB
- Hasholt L
- Hayden MR
- HD MAPS Study Group
- Heaton RK
- Hedge R
- Heiberg A
- Heinicke W
- Held C
- Helmer K
- Henneberry M
- Hernanz LC
- Herranhof B
- Herrera CD
- Hersch SM
- Hershey T
- Herwig K
- Hickey C
- Hidding U
- Higgins D
- Hiivola H
- Hill S
- Hjermind LE
- Hobson E
- Hoffmann R
- Holl AH
- Howard E
- Howard L
- Hunt S
- Hunt V
- Hunter C
- Huson S
- Ialongo T
- Idiago JM
- Illmann T
- Jachinska K
- Jacopini G
- Jaglin J
- Jakobsen O
- Jamieson S
- Jamrozik Z
- Janik P
- Jankovic J
- Jankovic J
- Jennings D
- Johns N
- Johnson A
- Johnson H
- Jones K
- Jones L
- Jones R
- Jones U
- Juhl A
- Jurgens CK
- Kaelin A
- Kalbarczyk A
- Kang UJ
- Kershaw A
- Khalil H
- Kieni J
- Kim EY
- Kimble M
- King P
- Klimberg A
- Klimek ML
- Klimek ML
- Klimek ML
- Klöppel S
- Koenig K
- Koivisto SP
- Komiti A
- Koppers K
- Kosinski CM
- Kostyk S
- Krawczyk M
- Kremer B
- Krysa W
- Kumar R
- Kumar R
- Kwiecinski H
- Lahiri N
- Lambeck J
- Langbehn D
- Lange H
- Laver F
- Leavitt B
- Leavitt B
- LeDoux M
- Lee JH
- Lee JM
- Leenders KL
- Leserman A
- Levey J
- Leythaeuser G
- Lezius F
- Lim K
- Lindsay P
- Lipe H
- Llesoy JR
- Lorenza F
- Loria G
- Louis E
- Lowe M
- Loy C
- Lucarelli N
- Lucente D
- López CD
- Löhle M
- MacDonald ME
- Magnet M
- Magnotta VA
- Malarick K
- Mallonee W
- Mallonee WM
- Mandich P
- Mans N
- Marchese R
- Marcinkowski J
- Marder K
- Margolis RL
- Marietta J
- Mariotti C
- Mariscal N
- Markova I
- Marquard R
- Marshall F
- Marshall F
- Martikainen K
- Martin A
- Martin W
- Martino T
- Martínez Descals A
- Martínez IH
- Mason S
- Mason S
- Matheson K
- Matson W
- Mazzoni P
- McCusker E
- McDowell W
- McInnis R
- McKenzie S
- Mechi C
- Mendes T
- Mestre T
- Middleton J
- Miedzybrodzka Z
- Milkereit E
- Miller J
- Miller J
- Miller M
- Mills J
- Minster S
- Miracle D
- Mohlo E
- Montross K
- Monza D
- Moore D
- Morales B
- Moreau LV
- Moreno JL
- Morgan J
- Mori S
- Morrison P
- Moser DJ
- Moskowitz C
- Moskowitz C
- Muratori L
- Murch A
- Mysore JS
- Möller JC
- Münchau A
- Nance M
- Newman E
- Nielsen JE
- Niess A
- Nopoulos P
- Novak M
- Novak M
- Novelletto A
- Nucifora F
- Nørremølle A
- O'Donovan K
- O'Neill C
- O'Rourke J
- Oakes D
- Oakes D
- Ondo W
- Orobello S
- Orth M
- Orth M
- Otti D
- Owen M
- Padieu H
- Paganini M
- Painold A
- Palao A
- Panegyres P
- Panegyres P
- Panisset M
- Partington Jones L
- Paterski L
- Paterson N
- Patino D
- Patton M
- Paulsen JS
- Pease K
- Peavy G
- Peinemann A
- Peppa N
- Perea MF
- Perlman S
- Perlman S
- Perlman S
- Perlmutter J
- Perlmutter J
- Peterson A
- Peterson M
- Phillips M
- Piacentini S
- Piano C
- Pierson R
- Pons i. Càrdenas R
- Potkin S
- PREDICT HD study of the Huntington Study Group Landwehrmeyer GB
- Prehn C
- Preston J
- Price K
- Price K
- Price K
- Probst D
- Päivärinta M
- Quaid K
- Quaid K
- Quarrell O
- Quesada M
- Quiroga PP
- Raab T
- Radtke D
- Rae D
- Rakowicz M
- Raman A
- Ramos EM
- Rao S
- Raymond L
- Raymond L
- Raymond L
- Reading S
- Ready R
- Reece C
- REGISTRY study of the European Huntington's Disease Network Myers RH
- Reilmann R
- Reilmann R
- Reinante G
- Reisinger K
- Retterstøl L
- Revilla F
- Reynolds N
- Riballo AV
- Ribas GG
- Ribaï P
- Richardson K
- Richter S
- Rickards H
- Rickards H
- Rinaldi C
- Rissling I
- Ritchie S
- Rivera SV
- Ro E
- Robert MF
- Robertson S
- Robinson R
- Robottom B
- Roca E
- Rodnitzky R
- Rogers B
- Romano S
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- Yastrubetskaya O
- Yastrubetskaya O
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- Yudina E
- Zanko A
- Zaremba J
- Zauber E.
- Zaugg SW
- Zdzienicka E
- Zhao YQ
- Zielonka D
- Zielonka E
- Zimbelman J
- Zinzi P
- Zittel S
- Zschiegner R
- Zucker B
- Šašinková P
- Publication venue
- Publication date
- 01/01/2012
- Field of study
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs. Methods: We modeled natural log-transformed age at onset as a function of CAG repeat lengths of expanded and normal alleles and their interaction by linear regression. Results: An apparently significant effect of interaction on age at motor onset among 4,068 subjects was dependent on a single outlier data point. A rigorous statistical analysis with a wellbehaved dataset that conformed to the fundamental assumptions of linear regression (e.g., constant variance and normally distributed error) revealed significance only for the expanded CAG repeat, with no effect of the normal CAG repeat. Ten subjects with 2 expanded alleles showed an age at motor onset consistent with the length of the larger expanded allele. Conclusions: Normal allele CAG length, interaction between expanded and normal alleles, and presence of a second expanded allele do not influence age at onset of motor manifestations, indicating that the rate of HD pathogenesis leading to motor diagnosis is determined by a completely dominant action of the longest expanded allele and as yet unidentified genetic or environmental factors. Copyright © 2012 by AAN Enterprises, Inc
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
- Author
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- Witkowski G
- Witkowski G
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- Yardumian P
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- Zdzienicka E
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- Zielonka D
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- Zinzi P
- Zinzi P
- Zittel S
- Zucker B
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2017
- Field of study
Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure