Journal ArticleDOI
Machado–Joseph disease in three Scandinavian families
Thomas Løkkegaard,Jørgen E. Nielsen,Lis Hasholt,Kirsten Fenger,L Werdelin,L Tranebjærg,Martin Lauritzen,E Colding-Jørgensen,M Grønbech-Jensen,O.A Henriksen,Sven Asger Sørensen +10 more
TLDR
A significant inverse correlation between age of onset and the length of the CAG repeat expansion is found, and anticipation is described through four succeeding generations.Citations
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YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
Cemal K. Cemal,Christopher Carroll,L Lawrence,Margaret B. Lowrie,Piers Ruddle,Sahar Al-Mahdawi,Rosalind H.M. King,Mark A. Pook,Clare Huxley,Susan Chamberlain +9 more
TL;DR: These mice are representative of MJD and will be a valuable resource for the detailed analysis of the roles of repeat length, tissue specificity and level of expression in the neurodegenerative processes underlying MJD pathogenesis.
Journal ArticleDOI
Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease
Sandro Alves,Etienne Régulier,Isabel Nascimento-Ferreira,Raymonde Hassig,Raymonde Hassig,Noelle Dufour,Noelle Dufour,Arnulf H. Koeppen,Ana Luísa Carvalho,Sérgio Simões,Maria C. Pedroso de Lima,Emmanuel Brouillet,Emmanuel Brouillet,Veronica F. Colomer Gould,Nicole Déglon,Nicole Déglon,Luís Pereira de Almeida +16 more
TL;DR: This study demonstrates the use of LV encoding mutant ataxin-3 to produce a model of MJD and brings evidence of striatal pathology, suggesting that this region may contribute to dystonia and chorea observed in some MJD patients and may represent a target for therapies.
Journal ArticleDOI
Pathology of CAG repeat diseases.
TL;DR: It was revealed that, in the DRPLA brain, expanded polyglutamine stretches were diffusely accumulated in neuronal nucleoplasm, and this nuclear pathology involved many neurons in various nervous system regions, such as the cerebral cortex, thalamus, substantia nigra, pontine nuclei, reticular formation and inferior olive.
Journal ArticleDOI
Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease
TL;DR: It is demonstrated immunohistochemically that expanded polyglutamine stretches largely accumulate as inclusions in neuronal nuclei, and less frequently are distributed in the nucleoplasm in a diffuse pattern.
Journal ArticleDOI
Neocortical Atrophy in Machado-Joseph Disease: A Longitudinal Neuroimaging Study
Anelyssa D'Abreu,Marcondes C. França,Clarissa L. Yasuda,Bruno A. G. Campos,Iscia Lopes-Cendes,Fernando Cendes +5 more
TL;DR: The most important factors in predicting GMD were age and CAG as discussed by the authors, age, CAG, and disease duration, but CAG was the most important predictors of GMD in different areas, while changes in regions other than the cerebellum appeared to contribute significantly.
References
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Journal ArticleDOI
A simple salting out procedure for extracting DNA from human nucleated cells
TL;DR: A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.
Journal ArticleDOI
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Yoshiya Kawaguchi,Toshihiro Okamoto,Masafumi Taniwaki,Megumi Aizawa,Miho Inoue,Sadao Katayama,Hideshi Kawakami,Shigenobu Nakamura,Masaki Nishimura,Ichiro Akiguchi,Jun Kimura,Shuh Narumiya,Akira Kakizuka +12 more
TL;DR: Southern blot analyses and genomic cloning demonstrates the existence of related genes, raising the possibility that similar abnormalities in related genes may give rise to diseases similar to Machado-Joseph disease.
Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Journal ArticleDOI
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Reiji Koide,Takeshi Ikeuchi,Osamu Onodera,H. Tanaka,Shuichi Igarashi,Kotaro Endo,Hitoshi Takahashi,R. Kondo,A. Ishikawa,T. Hayashi,Masaaki Saito,Akemi Tomoda,Teruhisa Miike,Haruhiko Naito,Fusahiro Ikuta,Shoji Tsuji +15 more
TL;DR: It is proposed that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
Journal ArticleDOI
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
S E Andrew,Y P Goldberg,B Kremer,H Telenius,J Theilmann,Shelin Adam,E Starr,Ferdinando Squitieri,Biaoyang Lin,Michael Kalchman +9 more
TL;DR: Sib pair and parent–child analysis revealed that the CAG repeat demonstrates only mild instability, and significant associations were also found between repeat length and age of death and onset of other clinical features.